ClinVar for MedGen (Select 78643) - ClinVar

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Items: 83

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18057441.	NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter) GRCh37: Chr2:128044321 GRCh38: Chr2:127286745	ERCC3	E370, E434	Xeroderma pigmentosum, Xeroderma pigmentosum group B	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15485492.	NM_000122.2(ERCC3):c.1730+16T>G GRCh37: Chr2:128036733 GRCh38: Chr2:127279157	ERCC3		Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14585933.	NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) GRCh37: Chr2:128016958 GRCh38: Chr2:127259382	ERCC3	Q647, Q711	not provided, Xeroderma pigmentosum group B, Inborn genetic diseases	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14055074.	NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) GRCh37: Chr2:128036759 GRCh38: Chr2:127279183	ERCC3	R574, R510	Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, not provided	Pathogenic/Likely pathogenic (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13947435.	NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) GRCh37: Chr2:128038202 GRCh38: Chr2:127280626	ERCC3	M450V, M386V	Inborn genetic diseases, not provided, Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13610816.	NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) GRCh37: Chr2:128017000 GRCh38: Chr2:127259424	ERCC3	E633K, E697K	not provided, Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13359507.	NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) GRCh37: Chr2:128044500-128044501 GRCh38: Chr2:127286924-127286925	ERCC3	W310, W374	Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B, not provided, Xeroderma pigmentosum	Pathogenic/Likely pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13195568.	NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) GRCh37: Chr2:128044459 GRCh38: Chr2:127286883	ERCC3	Q324, Q388	Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B, not provided	Pathogenic/Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10706329.	NM_000122.2(ERCC3):c.1757del (p.Gln586fs) GRCh37: Chr2:128030511 GRCh38: Chr2:127272935	ERCC3	Q522fs, Q586fs	Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B, not provided, Xeroderma pigmentosum	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99589310.	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) GRCh37: Chr2:128038196 GRCh38: Chr2:127280620	ERCC3	R388, R452	not provided, Xeroderma pigmentosum group B	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89478311.	NM_000122.2(ERCC3):c.1182C>T (p.Ser394=) GRCh37: Chr2:128044439 GRCh38: Chr2:127286863	ERCC3		Xeroderma pigmentosum group B, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 89478212.	NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) GRCh37: Chr2:128038139 GRCh38: Chr2:127280563	ERCC3	V471I, V407I	not provided, Xeroderma pigmentosum group B	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89390313.	NM_000122.2(ERCC3):c.-31G>A GRCh37: Chr2:128051688 GRCh38: Chr2:127294112	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89390214.	NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) GRCh37: Chr2:128051192 GRCh38: Chr2:127293616	ERCC3	K44R	not provided, Xeroderma pigmentosum group B, Inborn genetic diseases	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89390115.	NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) GRCh37: Chr2:128051179 GRCh38: Chr2:127293603	ERCC3	E48D	Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89387316.	NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) GRCh37: Chr2:128028946 GRCh38: Chr2:127271370	ERCC3		Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Dec 10, 2021)	criteria provided, conflicting interpretations
Select item 89387217.	NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) GRCh37: Chr2:128018882 GRCh38: Chr2:127261306	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89387118.	NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) GRCh37: Chr2:128017009 GRCh38: Chr2:127259433	ERCC3	A630S, A694S	Xeroderma pigmentosum group B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89387019.	NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) GRCh37: Chr2:128017002 GRCh38: Chr2:127259426	ERCC3	M632R, M696R	Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group B	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89361320.	NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) GRCh37: Chr2:128050343 GRCh38: Chr2:127292767	ERCC3	E41G, E105G	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89361221.	NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) GRCh37: Chr2:128047393 GRCh38: Chr2:127289817	ERCC3	V113I, V177I	not provided, Xeroderma pigmentosum group B	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89358422.	NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) GRCh37: Chr2:128015297 GRCh38: Chr2:127257721	ERCC3	R678W, R742W	Xeroderma pigmentosum group B, not provided	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89358323.	NM_000122.2(ERCC3):c.*83C>T GRCh37: Chr2:128015089 GRCh38: Chr2:127257513	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89281224.	NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg) GRCh37: Chr2:128044545 GRCh38: Chr2:127286969	ERCC3	K359R, K295R	not provided, Xeroderma pigmentosum group B	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89281125.	NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) GRCh37: Chr2:128044511 GRCh38: Chr2:127286935	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89281026.	NM_000122.2(ERCC3):c.1152T>C (p.Ile384=) GRCh37: Chr2:128044469 GRCh38: Chr2:127286893	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89277327.	NM_000122.2(ERCC3):c.*138G>C GRCh37: Chr2:128015034 GRCh38: Chr2:127257458	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89277228.	NM_000122.2(ERCC3):c.*220G>C GRCh37: Chr2:128014952 GRCh38: Chr2:127257376	ERCC3		Xeroderma pigmentosum group B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87069029.	NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) GRCh37: Chr2:128030505-128030506 GRCh38: Chr2:127272929-127272930	ERCC3	E588fs, E524fs	Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B, not provided	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 84750130.	NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) GRCh37: Chr2:128051291 GRCh38: Chr2:127293715	ERCC3	K11R	Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80174931.	NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) GRCh37: Chr2:128050197 GRCh38: Chr2:127292621	ERCC3	Q154, Q90	not provided, Xeroderma pigmentosum group B	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80174832.	NM_000122.2(ERCC3):c.1828-36C>T GRCh37: Chr2:128029065 GRCh38: Chr2:127271489	ERCC3		Xeroderma pigmentosum group B	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80174733.	NM_000122.2(ERCC3):c.1828-35C>T GRCh37: Chr2:128029064 GRCh38: Chr2:127271488	ERCC3		Xeroderma pigmentosum group B	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80174634.	NM_000122.2(ERCC3):c.1828-33C>T GRCh37: Chr2:128029062 GRCh38: Chr2:127271486	ERCC3		Xeroderma pigmentosum group B	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80174535.	NM_000122.2(ERCC3):c.1828-32A>T GRCh37: Chr2:128029061 GRCh38: Chr2:127271485	ERCC3		Xeroderma pigmentosum group B	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80174436.	NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) GRCh37: Chr2:128028924 GRCh38: Chr2:127271348	ERCC3	R581, R645	Xeroderma pigmentosum group B	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 78334037.	NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) GRCh37: Chr2:128044286 GRCh38: Chr2:127286710	ERCC3		not provided, Xeroderma pigmentosum group B	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75807938.	NM_000122.2(ERCC3):c.2218-6C>T GRCh37: Chr2:128015309 GRCh38: Chr2:127257733	ERCC3		Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 71068339.	NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) GRCh37: Chr2:128015295 GRCh38: Chr2:127257719	ERCC3		not provided, Xeroderma pigmentosum group B, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 69535440.	NM_000122.2(ERCC3):c.2218-5G>A GRCh37: Chr2:128015308 GRCh38: Chr2:127257732	ERCC3		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 63233041.	NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) GRCh37: Chr2:128030510-128030511 GRCh38: Chr2:127272934-127272935	ERCC3	Q522fs, Q586fs	not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 63232942.	NM_000122.2(ERCC3):c.1887dup (p.Gly630fs) GRCh37: Chr2:128028969-128028970 GRCh38: Chr2:127271393-127271394	ERCC3	G566fs, G630fs	Xeroderma pigmentosum group B	Uncertain significance (Oct 21, 2018)	criteria provided, single submitter
Select item 63182643.	NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) GRCh37: Chr2:128046938-128046939 GRCh38: Chr2:127289362-127289363	ERCC3	Q266fs, Q202fs	Xeroderma pigmentosum group B	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 62744344.	NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) GRCh37: Chr2:128047339 GRCh38: Chr2:127289763	ERCC3	R195, R131	not provided	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 36930945.	NM_000122.2(ERCC3):c.-98A>G GRCh37: Chr2:128051755 GRCh38: Chr2:127294179	ERCC3		Xeroderma pigmentosum, Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive	Benign/Likely benign (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33109846.	NM_000122.1(ERCC3):c.-69C>T GRCh37: Chr2:128051726 GRCh38: Chr2:127294150	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33109747.	NM_000122.2(ERCC3):c.-19C>T GRCh37: Chr2:128051676 GRCh38: Chr2:127294100	ERCC3		Xeroderma pigmentosum group B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33109648.	NM_000122.2(ERCC3):c.28+8G>A GRCh37: Chr2:128051622 GRCh38: Chr2:127294046	ERCC3		not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Apr 21, 2022)	criteria provided, conflicting interpretations
Select item 33109549.	NM_000122.2(ERCC3):c.29-15G>T GRCh37: Chr2:128051309 GRCh38: Chr2:127293733	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33109450.	NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys) GRCh37: Chr2:128050403 GRCh38: Chr2:127292827	ERCC3	F85C, F21C	Xeroderma pigmentosum group B, not provided	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33109251.	NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) GRCh37: Chr2:128050298 GRCh38: Chr2:127292722	ERCC3	A120V, A56V	Inborn genetic diseases, not provided, Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33109152.	NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) GRCh37: Chr2:128050272 GRCh38: Chr2:127292696	ERCC3	V129I, V65I	Inborn genetic diseases, Trichothiodystrophy 2, photosensitive, not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33109053.	NM_000122.2(ERCC3):c.615G>A (p.Glu205=) GRCh37: Chr2:128047307 GRCh38: Chr2:127289731	ERCC3		not provided, Xeroderma pigmentosum group B	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33108954.	NM_000122.2(ERCC3):c.618C>T (p.Ala206=) GRCh37: Chr2:128047304 GRCh38: Chr2:127289728	ERCC3		not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 33108855.	NM_000122.2(ERCC3):c.657+15G>A GRCh37: Chr2:128047250 GRCh38: Chr2:127289674	ERCC3		Xeroderma pigmentosum group B, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 33108756.	NM_000122.2(ERCC3):c.822+14C>T GRCh37: Chr2:128046899 GRCh38: Chr2:127289323	ERCC3		Xeroderma pigmentosum group B, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 33108657.	NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) GRCh37: Chr2:128046237 GRCh38: Chr2:127288661	ERCC3		Xeroderma pigmentosum group B, not provided, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Mar 10, 2022)	criteria provided, conflicting interpretations
Select item 33108558.	NM_000122.2(ERCC3):c.1027+3A>G GRCh37: Chr2:128046233 GRCh38: Chr2:127288657	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33108459.	NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys) GRCh37: Chr2:128044543 GRCh38: Chr2:127286967	ERCC3	R360C, R296C	not provided, Xeroderma pigmentosum group B	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33108360.	NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) GRCh37: Chr2:128044502 GRCh38: Chr2:127286926	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33108261.	NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) GRCh37: Chr2:128044466 GRCh38: Chr2:127286890	ERCC3		Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 33108162.	NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn) GRCh37: Chr2:128044465 GRCh38: Chr2:127286889	ERCC3	D386N, D322N	Xeroderma pigmentosum group B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33108063.	NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) GRCh37: Chr2:128038179 GRCh38: Chr2:127280603	ERCC3		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Aug 8, 2022)	criteria provided, conflicting interpretations
Select item 33107964.	NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) GRCh37: Chr2:128038065 GRCh38: Chr2:127280489	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33107865.	NM_000122.2(ERCC3):c.1731-11T>C GRCh37: Chr2:128030548 GRCh38: Chr2:127272972	ERCC3		Xeroderma pigmentosum group B, not provided	Conflicting interpretations of pathogenicity (Mar 24, 2021)	criteria provided, conflicting interpretations
Select item 33107766.	NM_000122.2(ERCC3):c.1929G>T (p.Val643=) GRCh37: Chr2:128028928 GRCh38: Chr2:127271352	ERCC3		not provided, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 33107667.	NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) GRCh37: Chr2:128017009 GRCh38: Chr2:127259433	ERCC3	A694T, A630T	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 33107468.	NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) GRCh37: Chr2:128016983 GRCh38: Chr2:127259407	ERCC3		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 33107369.	NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) GRCh37: Chr2:128016977 GRCh38: Chr2:127259401	ERCC3		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 33107270.	NM_000122.2(ERCC3):c.*29C>T GRCh37: Chr2:128015143 GRCh38: Chr2:127257567	ERCC3		not provided, Xeroderma pigmentosum group B	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33107171.	NM_000122.2(ERCC3):c.*106T>C GRCh37: Chr2:128015066 GRCh38: Chr2:127257490	ERCC3		not provided, Xeroderma pigmentosum group B	Likely benign (Jun 21, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33107072.	NM_000122.2(ERCC3):c.*177A>G GRCh37: Chr2:128014995 GRCh38: Chr2:127257419	ERCC3		Xeroderma pigmentosum group B	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33106873.	NM_000122.2(ERCC3):c.*259G>A GRCh37: Chr2:128014913 GRCh38: Chr2:127257337	ERCC3		not provided, Xeroderma pigmentosum group B	Benign (Jan 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 26551574.	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) GRCh37: Chr2:128050332 GRCh38: Chr2:127292756	ERCC3	R109, R45	not provided, Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B, Xeroderma pigmentosum	Pathogenic/Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13413075.	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) GRCh37: Chr2:128038128-128038129 GRCh38: Chr2:127280552-127280553	ERCC3	D474fs, D410fs	Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum, Xeroderma pigmentosum group B, not provided	Pathogenic/Likely pathogenic (Nov 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13412876.	NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) GRCh37: Chr2:128046416 GRCh38: Chr2:127288840	ERCC3	R283C, R219C	Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive, Trichothiodystrophy 2, photosensitive, not provided, not specified, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13412077.	NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) GRCh37: Chr2:128016978 GRCh38: Chr2:127259402	ERCC3	S704L, S640L	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group B	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1658978.	NM_000122.2(ERCC3):c.471+1G>A GRCh37: Chr2:128050185 GRCh38: Chr2:127292609	ERCC3		Xeroderma pigmentosum	Pathogenic (Mar 31, 2023)	criteria provided, single submitter
Select item 1658879.	NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) GRCh37: Chr2:128036846 GRCh38: Chr2:127279270	ERCC3	Q545, Q481	Xeroderma pigmentosum group B	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 1658680.	NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) GRCh37: Chr2:128046925-128046926 GRCh38: Chr2:127289349-127289350	ERCC3		not provided	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 1658581.	NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) GRCh37: Chr2:128044348 GRCh38: Chr2:127286772	ERCC3	R425, R361	Inborn genetic diseases, not provided	Pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1658382.	NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) GRCh37: Chr2:128050361 GRCh38: Chr2:127292785	ERCC3	F99S, F35S	Xeroderma pigmentosum group B	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 1658283.	NM_000122.2(ERCC3):c.2218-6C>A GRCh37: Chr2:128015309 GRCh38: Chr2:127257733	ERCC3		Xeroderma pigmentosum group B	Pathogenic (Nov 1, 2006)	no assertion criteria provided

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Items: 83