ClinVar for MedGen (Select 344221) - ClinVar

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Items: 84

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14258471.	NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) GRCh37: Chr12:100811830 GRCh38: Chr12:100418052	SLC17A8	I391V, I441V	Autosomal dominant nonsyndromic hearing loss 25, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14203062.	NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) GRCh37: Chr12:100811839 GRCh38: Chr12:100418061	SLC17A8	R394C, R444C	Autosomal dominant nonsyndromic hearing loss 25, not provided	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11812203.	NM_139319.3(SLC17A8):c.1187-45C>T GRCh37: Chr12:100806503 GRCh38: Chr12:100412725	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11745254.	NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) GRCh37: Chr12:100790153 GRCh38: Chr12:100396375	SLC17A8	P212T	Autosomal dominant nonsyndromic hearing loss 25	Likely pathogenic (Apr 12, 2019)	criteria provided, single submitter
Select item 10771635.	NM_139319.3(SLC17A8):c.616dup (p.Met206fs) GRCh37: Chr12:100790134-100790135 GRCh38: Chr12:100396356-100396357	SLC17A8	M206fs	Autosomal dominant nonsyndromic hearing loss 25	Pathogenic (May 12, 2021)	no assertion criteria provided
Select item 8840456.	NM_139319.3(SLC17A8):c.*1883T>C GRCh37: Chr12:100815820 GRCh38: Chr12:100422042	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8840447.	NM_139319.3(SLC17A8):c.*1839A>G GRCh37: Chr12:100815776 GRCh38: Chr12:100421998	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8839808.	NM_139319.3(SLC17A8):c.*209T>C GRCh37: Chr12:100814146 GRCh38: Chr12:100420368	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8839799.	NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) GRCh37: Chr12:100813812 GRCh38: Chr12:100420034	SLC17A8	G549R, G499R	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88397810.	NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) GRCh37: Chr12:100813786 GRCh38: Chr12:100420008	SLC17A8	A490V, A540V	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88397711.	NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) GRCh37: Chr12:100813612 GRCh38: Chr12:100419834	SLC17A8	N482T, N432T	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88397612.	NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) GRCh37: Chr12:100813597 GRCh38: Chr12:100419819	SLC17A8	R477H, R427H	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88390213.	NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) GRCh37: Chr12:100774501 GRCh38: Chr12:100380723	SLC17A8	E42K	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88390114.	NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) GRCh37: Chr12:100774487 GRCh38: Chr12:100380709	SLC17A8	D37G	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88390015.	NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) GRCh37: Chr12:100774486 GRCh38: Chr12:100380708	SLC17A8	D37N	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Nov 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 88324016.	NM_139319.3(SLC17A8):c.*1243A>C GRCh37: Chr12:100815180 GRCh38: Chr12:100421402	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88323917.	NM_139319.3(SLC17A8):c.*1223T>A GRCh37: Chr12:100815160 GRCh38: Chr12:100421382	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88318718.	NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) GRCh37: Chr12:100811840 GRCh38: Chr12:100418062	SLC17A8	R394L, R444L	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88318619.	NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) GRCh37: Chr12:100797868 GRCh38: Chr12:100404090	SLC17A8	I369T, I319T	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88312420.	NM_139319.3(SLC17A8):c.-72A>T GRCh37: Chr12:100751098 GRCh38: Chr12:100357320	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88312321.	NM_139319.3(SLC17A8):c.-93A>G GRCh37: Chr12:100751077 GRCh38: Chr12:100357299	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88312222.	NM_139319.3(SLC17A8):c.-246T>C GRCh37: Chr12:100750924 GRCh38: Chr12:100357146	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88210123.	NM_139319.3(SLC17A8):c.*1090A>T GRCh37: Chr12:100815027 GRCh38: Chr12:100421249	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88210024.	NM_139319.3(SLC17A8):c.*1077A>G GRCh37: Chr12:100815014 GRCh38: Chr12:100421236	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88209925.	NM_139319.3(SLC17A8):c.*671C>T GRCh37: Chr12:100814608 GRCh38: Chr12:100420830	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88209826.	NM_139319.3(SLC17A8):c.*542G>A GRCh37: Chr12:100814479 GRCh38: Chr12:100420701	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88209727.	NM_139319.3(SLC17A8):c.*541G>C GRCh37: Chr12:100814478 GRCh38: Chr12:100420700	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88202928.	NM_139319.3(SLC17A8):c.903+5G>A GRCh37: Chr12:100796262 GRCh38: Chr12:100402484	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88202829.	NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) GRCh37: Chr12:100796120 GRCh38: Chr12:100402342	SLC17A8	M256L	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Apr 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88194530.	NM_139319.3(SLC17A8):c.-295C>G GRCh37: Chr12:100750875 GRCh38: Chr12:100357097	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88194431.	NM_139319.3(SLC17A8):c.-311G>A GRCh37: Chr12:100750859 GRCh38: Chr12:100357081	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88069132.	NM_139319.3(SLC17A8):c.*540A>G GRCh37: Chr12:100814477 GRCh38: Chr12:100420699	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88069033.	NM_139319.3(SLC17A8):c.*480C>T GRCh37: Chr12:100814417 GRCh38: Chr12:100420639	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88068934.	NM_139319.3(SLC17A8):c.*473T>C GRCh37: Chr12:100814410 GRCh38: Chr12:100420632	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88061435.	NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) GRCh37: Chr12:100795565 GRCh38: Chr12:100401787	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25, not provided	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 88061336.	NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) GRCh37: Chr12:100787239 GRCh38: Chr12:100393461	SLC17A8	R189K	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 63217837.	NM_139319.3(SLC17A8):c.903+1G>A GRCh37: Chr12:100796258 GRCh38: Chr12:100402480	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Aug 14, 2018)	criteria provided, single submitter
Select item 51374938.	NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) GRCh37: Chr12:100774609 GRCh38: Chr12:100380831	SLC17A8	I78V	not provided, Autosomal dominant nonsyndromic hearing loss 25	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45255139.	NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) GRCh37: Chr12:100774547 GRCh38: Chr12:100380769	SLC17A8	T57M	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30666140.	NM_139319.3(SLC17A8):c.*1716C>T GRCh37: Chr12:100815653 GRCh38: Chr12:100421875	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30666041.	NM_139319.3(SLC17A8):c.*1587A>G GRCh37: Chr12:100815524 GRCh38: Chr12:100421746	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30665842.	NM_139319.3(SLC17A8):c.*1502T>G GRCh37: Chr12:100815439 GRCh38: Chr12:100421661	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30665043.	NM_139319.3(SLC17A8):c.*1486A>G GRCh37: Chr12:100815423 GRCh38: Chr12:100421645	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30664944.	NM_139319.3(SLC17A8):c.*1306C>T GRCh37: Chr12:100815243 GRCh38: Chr12:100421465	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30664845.	NM_139319.3(SLC17A8):c.*1295T>C GRCh37: Chr12:100815232 GRCh38: Chr12:100421454	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30664746.	NM_139319.3(SLC17A8):c.*1140T>C GRCh37: Chr12:100815077 GRCh38: Chr12:100421299	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30664647.	NM_139319.3(SLC17A8):c.*817A>T GRCh37: Chr12:100814754 GRCh38: Chr12:100420976	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30664548.	NM_139319.3(SLC17A8):c.*715A>C GRCh37: Chr12:100814652 GRCh38: Chr12:100420874	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30664449.	NM_139319.3(SLC17A8):c.*534T>C GRCh37: Chr12:100814471 GRCh38: Chr12:100420693	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30664350.	NM_139319.3(SLC17A8):c.*507G>A GRCh37: Chr12:100814444 GRCh38: Chr12:100420666	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30664251.	NM_139319.3(SLC17A8):c.*357A>G GRCh37: Chr12:100814294 GRCh38: Chr12:100420516	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30664152.	NM_139319.3(SLC17A8):c.*335C>T GRCh37: Chr12:100814272 GRCh38: Chr12:100420494	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30664053.	NM_139319.3(SLC17A8):c.*244G>A GRCh37: Chr12:100814181 GRCh38: Chr12:100420403	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30663954.	NM_139319.3(SLC17A8):c.*178G>A GRCh37: Chr12:100814115 GRCh38: Chr12:100420337	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30663855.	NM_139319.3(SLC17A8):c.*71T>C GRCh37: Chr12:100814008 GRCh38: Chr12:100420230	SLC17A8		not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30663756.	NM_139319.3(SLC17A8):c.*39A>C GRCh37: Chr12:100813976 GRCh38: Chr12:100420198	SLC17A8		not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30663557.	NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) GRCh37: Chr12:100806614 GRCh38: Chr12:100412836	SLC17A8	S418F, S368F	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30663458.	NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) GRCh37: Chr12:100796486 GRCh38: Chr12:100402708	SLC17A8	A339D	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30663359.	NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) GRCh37: Chr12:100796485 GRCh38: Chr12:100402707	SLC17A8	A339T	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30663260.	NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) GRCh37: Chr12:100796428 GRCh38: Chr12:100402650	SLC17A8	I320V	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30663161.	NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) GRCh37: Chr12:100796383 GRCh38: Chr12:100402605	SLC17A8	T305A	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30663062.	NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) GRCh37: Chr12:100795640 GRCh38: Chr12:100401862	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30662963.	NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) GRCh37: Chr12:100795601 GRCh38: Chr12:100401823	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25, not provided	Benign (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30662864.	NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) GRCh37: Chr12:100790177 GRCh38: Chr12:100396399	SLC17A8	A220T	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30662765.	NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) GRCh37: Chr12:100790157 GRCh38: Chr12:100396379	SLC17A8	P213R	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30662666.	NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) GRCh37: Chr12:100787203 GRCh38: Chr12:100393425	SLC17A8	A177V	Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30662567.	NM_139319.3(SLC17A8):c.354+7A>T GRCh37: Chr12:100774738 GRCh38: Chr12:100380960	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30662468.	NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) GRCh37: Chr12:100774598 GRCh38: Chr12:100380820	SLC17A8	K74T	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30662369.	NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) GRCh37: Chr12:100774587 GRCh38: Chr12:100380809	SLC17A8		not provided, Autosomal dominant nonsyndromic hearing loss 25	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 30662270.	NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) GRCh37: Chr12:100774495 GRCh38: Chr12:100380717	SLC17A8	T40A	not provided, Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30662171.	NM_139319.3(SLC17A8):c.-32T>G GRCh37: Chr12:100751138 GRCh38: Chr12:100357360	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30662072.	NM_139319.3(SLC17A8):c.-88A>C GRCh37: Chr12:100751082 GRCh38: Chr12:100357304	SLC17A8		Autosomal dominant nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30661973.	NM_139319.3(SLC17A8):c.-218T>C GRCh37: Chr12:100750952 GRCh38: Chr12:100357174	SLC17A8		not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Apr 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22794874.	NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) GRCh37: Chr12:100811913 GRCh38: Chr12:100418135	SLC17A8		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 22547175.	NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) GRCh37: Chr12:100797882 GRCh38: Chr12:100404104	SLC17A8	A374S, A324S	not provided, Autosomal dominant nonsyndromic hearing loss 25	Conflicting interpretations of pathogenicity (Apr 22, 2020)	criteria provided, conflicting interpretations
Select item 19861776.	NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) GRCh37: Chr12:100796212 GRCh38: Chr12:100402434	SLC17A8		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign/Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17980377.	NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) GRCh37: Chr12:100811905 GRCh38: Chr12:100418127	SLC17A8	L466I, L416I	Inborn genetic diseases, not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25	Conflicting interpretations of pathogenicity (Dec 21, 2022)	criteria provided, conflicting interpretations
Select item 17863278.	NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) GRCh37: Chr12:100751192 GRCh38: Chr12:100357414	SLC17A8	T8I	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16524279.	NM_139319.3(SLC17A8):c.355-4C>A GRCh37: Chr12:100784775 GRCh38: Chr12:100390997	SLC17A8		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4788580.	NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) GRCh37: Chr12:100795589 GRCh38: Chr12:100401811	SLC17A8		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4788481.	NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) GRCh37: Chr12:100751223 GRCh38: Chr12:100357445	SLC17A8		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4788382.	NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) GRCh37: Chr12:100774713 GRCh38: Chr12:100380935	SLC17A8		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4788283.	NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) GRCh37: Chr12:100774548 GRCh38: Chr12:100380770	SLC17A8		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 310984.	NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) GRCh37: Chr12:100790151 GRCh38: Chr12:100396373	SLC17A8	A211V	not provided	Likely pathogenic (Jun 26, 2015)	criteria provided, single submitter

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Items: 84