ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.393G>A (p.Val131=)

gnomAD frequency: 0.00012  dbSNP: rs146825313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480122 SCV001684436 likely benign Epidermodysplasia verruciformis 2023-04-04 criteria provided, single submitter clinical testing

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