ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.432G>A (p.Gly144=)

gnomAD frequency: 0.00002  dbSNP: rs759607911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002148814 SCV002469217 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2022-03-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002148814 SCV004562561 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2023-09-26 criteria provided, single submitter clinical testing

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