ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.540C>T (p.Phe180=)

gnomAD frequency: 0.00007  dbSNP: rs771022595
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000929294 SCV001074922 benign Charcot-Marie-Tooth Neuropathy X 2023-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271690 SCV001453014 uncertain significance Charcot-Marie-Tooth disease 2020-03-17 no assertion criteria provided clinical testing

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