ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1608G>A (p.Leu536=)

gnomAD frequency: 0.00001  dbSNP: rs141464477
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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 RCV002213794 SCV002495641 likely benign Epidermodysplasia verruciformis 2023-10-30 criteria provided, single submitter clinical testing

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