ClinVar Miner

Submissions for variant NM_153212.3(GJB4):c.109G>A (p.Val37Met)

gnomAD frequency: 0.00028  dbSNP: rs146378222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490427 SCV000267342 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV002054359 SCV002407325 benign not provided 2022-06-26 criteria provided, single submitter clinical testing

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