ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.675A>T (p.Pro225=)

gnomAD frequency: 0.00010  dbSNP: rs563151740
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979134 SCV001127073 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827091 SCV002094992 likely benign Autosomal recessive nonsyndromic hearing loss 1A 2020-10-13 no assertion criteria provided clinical testing

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