ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

gnomAD frequency: 0.00004  dbSNP: rs753503984
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622462 SCV000742508 uncertain significance Inborn genetic diseases 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654834 SCV000776736 likely benign Charcot-Marie-Tooth Neuropathy X 2024-01-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV000789057 SCV001336656 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789057 SCV000928406 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001700255 SCV001921595 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700255 SCV001971977 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000789057 SCV002087249 uncertain significance Charcot-Marie-Tooth disease 2020-03-09 no assertion criteria provided clinical testing

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