ClinVar Miner

Submissions for variant NM_153212.3(GJB4):c.238C>T (p.Gln80Ter)

gnomAD frequency: 0.00851  dbSNP: rs114429815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964807 SCV001112048 benign not provided 2024-11-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489377 SCV002796619 likely benign Erythrokeratodermia variabilis et progressiva 2 2021-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000964807 SCV005285079 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916164 SCV004740646 likely benign GJB4-related disorder 2020-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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