ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1040-4T>C

gnomAD frequency: 0.00004  dbSNP: rs374343214
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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 RCV000206672 SCV000260065 likely benign Charcot-Marie-Tooth disease type 4 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001711613 SCV000513035 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing

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