ClinVar for MedGen (Select 315658) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25826631.	NM_006306.4(SMC1A):c.1546-2A>C GRCh37: ChrX:53432890 GRCh38: ChrX:53405958	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely pathogenic (Jul 22, 2023)	criteria provided, single submitter
Select item 25824252.	NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr) GRCh37: ChrX:53432430 GRCh38: ChrX:53405498	SMC1A	H614Y, H636Y	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 25040243.	NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del) GRCh37: ChrX:53441940-53441951 GRCh38: ChrX:53414991-53415002	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely pathogenic (Apr 21, 2023)	criteria provided, single submitter
Select item 25008724.	NM_006306.4(SMC1A):c.3507+5G>A GRCh37: ChrX:53407934 GRCh38: ChrX:53381013	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24982185.	NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His) GRCh37: ChrX:53410109 GRCh38: ChrX:53383188	SMC1A	Q1013H, Q991H	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Apr 11, 2023)	criteria provided, single submitter
Select item 24423776.	NM_006306.4(SMC1A):c.2973+1G>A GRCh37: ChrX:53421697 GRCh38: ChrX:53394777	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Jul 20, 2021)	criteria provided, single submitter
Select item 24419997.	NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser) GRCh37: ChrX:53409516 GRCh38: ChrX:53382595	SMC1A	R1044S, R1066S	Congenital muscular hypertrophy-cerebral syndrome	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 24361448.	NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg) GRCh37: ChrX:53432507 GRCh38: ChrX:53405575	SMC1A	Q588R, Q610R	Congenital muscular hypertrophy-cerebral syndrome, not provided	Uncertain significance (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24281929.	NM_006306.4(SMC1A):c.1546-11A>G GRCh37: ChrX:53432899 GRCh38: ChrX:53405967	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Jul 21, 2022)	criteria provided, single submitter
Select item 242556410.	NC_000023.10:g.(?_53423127)_(53572142_?)dup GRCh37: ChrX:53423127-53572142	HSD17B10, HUWE1, RIBC1, SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 242556311.	NC_000023.10:g.(?_53435973)_(53442138_?)del GRCh37: ChrX:53435973-53442138	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 242556212.	NC_000023.10:g.(?_53222149)_(55057617_?)del GRCh37: ChrX:53222149-55057617	ALAS2, APEX2, FAM120C, FGD1, GNL3L, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MIR98, MIRLET7F2, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSR2, WNK3		Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 241920513.	NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser) GRCh37: ChrX:53432720 GRCh38: ChrX:53405788	SMC1A	P550S, P572S	Congenital muscular hypertrophy-cerebral syndrome	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 241799014.	NM_006306.4(SMC1A):c.1419C>T (p.Ile473=) GRCh37: ChrX:53436119 GRCh38: ChrX:53409188	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241659415.	NM_006306.4(SMC1A):c.3131-19C>T GRCh37: ChrX:53409600 GRCh38: ChrX:53382679	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 219573516.	NM_006306.4(SMC1A):c.444C>G (p.Pro148=) GRCh37: ChrX:53440353 GRCh38: ChrX:53413403	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 219447517.	NM_006306.4(SMC1A):c.2863-17C>G GRCh37: ChrX:53421825 GRCh38: ChrX:53394905	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 218928218.	NM_006306.4(SMC1A):c.1935A>G (p.Leu645=) GRCh37: ChrX:53432300 GRCh38: ChrX:53405368	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 218316819.	NM_006306.4(SMC1A):c.2785T>C (p.Leu929=) GRCh37: ChrX:53423224 GRCh38: ChrX:53396304	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 217609920.	NM_006306.4(SMC1A):c.3508-13G>T GRCh37: ChrX:53407664 GRCh38: ChrX:53380743	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 216767921.	NM_006306.4(SMC1A):c.615+8G>A GRCh37: ChrX:53440174 GRCh38: ChrX:53413224	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 216413222.	NM_006306.4(SMC1A):c.3131-5G>C GRCh37: ChrX:53409586 GRCh38: ChrX:53382665	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 216413123.	NM_006306.4(SMC1A):c.3131-4del GRCh37: ChrX:53409585 GRCh38: ChrX:53382664	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 216393624.	NM_006306.4(SMC1A):c.1911+18C>T GRCh37: ChrX:53432407 GRCh38: ChrX:53405475	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 216240825.	NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln) GRCh37: ChrX:53438835 GRCh38: ChrX:53411885	SMC1A	R377Q, R355Q	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 215714926.	NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys) GRCh37: ChrX:53421753 GRCh38: ChrX:53394833	SMC1A	Y951C, Y973C	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 215420527.	NM_006306.4(SMC1A):c.2421-16C>T GRCh37: ChrX:53426668 GRCh38: ChrX:53399746	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214578628.	NM_006306.4(SMC1A):c.2863-19C>T GRCh37: ChrX:53421827 GRCh38: ChrX:53394907	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 214577729.	NM_006306.4(SMC1A):c.2708+13A>G GRCh37: ChrX:53423379 GRCh38: ChrX:53396459	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 214347730.	NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly) GRCh37: ChrX:53440063 GRCh38: ChrX:53413113	SMC1A	D192G, D214G	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214179231.	NM_006306.4(SMC1A):c.2863-13G>A GRCh37: ChrX:53421821 GRCh38: ChrX:53394901	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 214029132.	NM_006306.4(SMC1A):c.1782G>A (p.Val594=) GRCh37: ChrX:53432554 GRCh38: ChrX:53405622	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 213491333.	NM_006306.4(SMC1A):c.1338-12C>G GRCh37: ChrX:53436212 GRCh38: ChrX:53409281	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 212883434.	NM_006306.4(SMC1A):c.351C>T (p.Tyr117=) GRCh37: ChrX:53441767 GRCh38: ChrX:53414818	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 212816235.	NM_006306.4(SMC1A):c.2487G>A (p.Lys829=) GRCh37: ChrX:53426586 GRCh38: ChrX:53399664	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 212764736.	NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys) GRCh37: ChrX:53441727 GRCh38: ChrX:53414778	SMC1A	R131C, R109C	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212707337.	NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val) GRCh37: ChrX:53438746 GRCh38: ChrX:53411796	SMC1A	L407V, L385V	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 211889638.	NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg) GRCh37: ChrX:53410122 GRCh38: ChrX:53383201	SMC1A	K987R, K1009R	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211816139.	NM_006306.4(SMC1A):c.2742C>T (p.Ala914=) GRCh37: ChrX:53423267 GRCh38: ChrX:53396347	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211724940.	NM_006306.4(SMC1A):c.1653G>A (p.Lys551=) GRCh37: ChrX:53432781 GRCh38: ChrX:53405849	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211543341.	NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu) GRCh37: ChrX:53432528 GRCh38: ChrX:53405596	SMC1A	P581L, P603L	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211224842.	NM_006306.4(SMC1A):c.2708+7G>A GRCh37: ChrX:53423385 GRCh38: ChrX:53396465	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 211057743.	NM_006306.4(SMC1A):c.1546-13C>G GRCh37: ChrX:53432901 GRCh38: ChrX:53405969	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210865744.	NM_006306.4(SMC1A):c.2708+12C>G GRCh37: ChrX:53423380 GRCh38: ChrX:53396460	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 210801845.	NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter) GRCh37: ChrX:53409457 GRCh38: ChrX:53382536	SMC1A	Y1085, Y1063	Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 210436246.	NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg) GRCh37: ChrX:53449546 GRCh38: ChrX:53422597	SMC1A	G2R	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210261047.	NM_006306.4(SMC1A):c.1338-4G>C GRCh37: ChrX:53436204 GRCh38: ChrX:53409273	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 210007648.	NM_006306.4(SMC1A):c.1935A>C (p.Leu645=) GRCh37: ChrX:53432300 GRCh38: ChrX:53405368	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209921849.	NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys) GRCh37: ChrX:53439121 GRCh38: ChrX:53412171	SMC1A	E291K, E313K	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 209400750.	NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn) GRCh37: ChrX:53407101 GRCh38: ChrX:53380180	SMC1A	D1209N, D1187N	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 209162651.	NM_006306.4(SMC1A):c.2088A>G (p.Ala696=) GRCh37: ChrX:53432052 GRCh38: ChrX:53405120	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 208757252.	NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter) GRCh37: ChrX:53441747 GRCh38: ChrX:53414798	SMC1A	L102, L124	Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 208757153.	NM_006306.4(SMC1A):c.374del (p.Gly125fs) GRCh37: ChrX:53441744 GRCh38: ChrX:53414795	SMC1A	G103fs, G125fs	Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 208733454.	NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=) GRCh37: ChrX:53407039 GRCh38: ChrX:53380118	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208590555.	NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr) GRCh37: ChrX:53423465 GRCh38: ChrX:53396545	SMC1A	A857T, A879T	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 207887156.	NM_006306.4(SMC1A):c.1488C>A (p.Arg496=) GRCh37: ChrX:53436050 GRCh38: ChrX:53409119	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 207603357.	NM_006306.4(SMC1A):c.412-9C>T GRCh37: ChrX:53440394 GRCh38: ChrX:53413444	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 206356558.	NM_006306.4(SMC1A):c.489G>A (p.Glu163=) GRCh37: ChrX:53440308 GRCh38: ChrX:53413358	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 206336559.	NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val) GRCh37: ChrX:53436130 GRCh38: ChrX:53409199	SMC1A	I448V, I470V	Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 206136060.	NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser) GRCh37: ChrX:53409500 GRCh38: ChrX:53382579	SMC1A	N1049S, N1071S	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 205061961.	NM_006306.4(SMC1A):c.2421-15del GRCh37: ChrX:53426667 GRCh38: ChrX:53399745	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Aug 1, 2022)	criteria provided, single submitter
Select item 205016262.	NM_006306.4(SMC1A):c.1404G>A (p.Arg468=) GRCh37: ChrX:53436134 GRCh38: ChrX:53409203	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 204944563.	NM_006306.4(SMC1A):c.2922A>G (p.Ala974=) GRCh37: ChrX:53421749 GRCh38: ChrX:53394829	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204523164.	NM_006306.4(SMC1A):c.2863-14C>T GRCh37: ChrX:53421822 GRCh38: ChrX:53394902	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Aug 5, 2022)	criteria provided, single submitter
Select item 203869765.	NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp) GRCh37: ChrX:53441958 GRCh38: ChrX:53415009	SMC1A	E68D, E90D	Congenital muscular hypertrophy-cerebral syndrome	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203832866.	NM_006306.4(SMC1A):c.1899C>T (p.His633=) GRCh37: ChrX:53432437 GRCh38: ChrX:53405505	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 203476467.	NM_006306.4(SMC1A):c.2314-5C>T GRCh37: ChrX:53430609 GRCh38: ChrX:53403677	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203325468.	NM_006306.4(SMC1A):c.1335C>T (p.Ser445=) GRCh37: ChrX:53436354 GRCh38: ChrX:53409423	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 203256569.	NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=) GRCh37: ChrX:53410022 GRCh38: ChrX:53383101	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 202976470.	NM_006306.4(SMC1A):c.1732-7C>A GRCh37: ChrX:53432611 GRCh38: ChrX:53405679	MIR6857, SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202593671.	NM_006306.4(SMC1A):c.2314-12T>C GRCh37: ChrX:53430616 GRCh38: ChrX:53403684	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 201968672.	NM_006306.4(SMC1A):c.1056A>G (p.Glu352=) GRCh37: ChrX:53439002 GRCh38: ChrX:53412052	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201630973.	NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly) GRCh37: ChrX:53432806 GRCh38: ChrX:53405874	SMC1A	D543G, D521G	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 201512374.	NM_006306.4(SMC1A):c.3508-6C>T GRCh37: ChrX:53407657 GRCh38: ChrX:53380736	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 201350975.	NM_006306.4(SMC1A):c.3130+11C>G GRCh37: ChrX:53410007 GRCh38: ChrX:53383086	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201283776.	NM_006306.4(SMC1A):c.615+14C>T GRCh37: ChrX:53440168 GRCh38: ChrX:53413218	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 201261077.	NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter) GRCh37: ChrX:53431994 GRCh38: ChrX:53405062	SMC1A	Q694, Q716	Congenital muscular hypertrophy-cerebral syndrome	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 201222478.	NM_006306.4(SMC1A):c.2928G>A (p.Glu976=) GRCh37: ChrX:53421743 GRCh38: ChrX:53394823	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 200849179.	NM_006306.4(SMC1A):c.1545+18A>G GRCh37: ChrX:53435975 GRCh38: ChrX:53409044	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200714380.	NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn) GRCh37: ChrX:53439044 GRCh38: ChrX:53412094	SMC1A	K316N, K338N	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 200628181.	NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe) GRCh37: ChrX:53439081 GRCh38: ChrX:53412131	SMC1A	Y304F, Y326F	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200615982.	NM_006306.4(SMC1A):c.474T>C (p.Ile158=) GRCh37: ChrX:53440323 GRCh38: ChrX:53413373	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 200529883.	NM_006306.4(SMC1A):c.2360G>A (p.Arg787His) GRCh37: ChrX:53430558 GRCh38: ChrX:53403626	SMC1A	R765H, R787H	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200355784.	NM_006306.4(SMC1A):c.243C>T (p.Ser81=) GRCh37: ChrX:53441985 GRCh38: ChrX:53415036	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200064685.	NM_006306.4(SMC1A):c.3131-7C>T GRCh37: ChrX:53409588 GRCh38: ChrX:53382667	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199894286.	NM_006306.4(SMC1A):c.412-12G>T GRCh37: ChrX:53440397 GRCh38: ChrX:53413447	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199366187.	NM_006306.4(SMC1A):c.855-17C>T GRCh37: ChrX:53439220 GRCh38: ChrX:53412270	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 199221988.	NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg) GRCh37: ChrX:53436169 GRCh38: ChrX:53409238	SMC1A	G435R, G457R	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 198660289.	NM_006306.4(SMC1A):c.3508-15C>T GRCh37: ChrX:53407666 GRCh38: ChrX:53380745	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Mar 13, 2022)	criteria provided, single submitter
Select item 197261090.	NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys) GRCh37: ChrX:53432457 GRCh38: ChrX:53405525	SMC1A	R605C, R627C	Congenital muscular hypertrophy-cerebral syndrome, not provided	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 196941991.	NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln) GRCh37: ChrX:53440051 GRCh38: ChrX:53413101	SMC1A	R218Q, R196Q	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 195839992.	NM_006306.4(SMC1A):c.616-19C>T GRCh37: ChrX:53440107 GRCh38: ChrX:53413157	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 195485293.	NM_006306.4(SMC1A):c.526G>A (p.Val176Met) GRCh37: ChrX:53440271 GRCh38: ChrX:53413321	SMC1A	V176M, V154M	Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 194691094.	NM_006306.4(SMC1A):c.1114-3C>T GRCh37: ChrX:53438854 GRCh38: ChrX:53411904	SMC1A		not provided, Congenital muscular hypertrophy-cerebral syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194404895.	NM_006306.4(SMC1A):c.1113+17del GRCh37: ChrX:53438928 GRCh38: ChrX:53411978	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Benign (Feb 7, 2022)	criteria provided, single submitter
Select item 194234696.	NM_006306.4(SMC1A):c.1059G>A (p.Arg353=) GRCh37: ChrX:53438999 GRCh38: ChrX:53412049	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 193800497.	NM_006306.4(SMC1A):c.3508-20C>T GRCh37: ChrX:53407671 GRCh38: ChrX:53380750	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 193321798.	NM_006306.4(SMC1A):c.2229C>T (p.Asn743=) GRCh37: ChrX:53430793 GRCh38: ChrX:53403861	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 192846899.	NM_006306.4(SMC1A):c.2974-20G>C GRCh37: ChrX:53410194 GRCh38: ChrX:53383273	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 1925796100.	NM_006306.4(SMC1A):c.110-17C>T GRCh37: ChrX:53442135 GRCh38: ChrX:53415186	SMC1A		Congenital muscular hypertrophy-cerebral syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter

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