ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.384A>C (p.Ala128=)

gnomAD frequency: 0.00002  dbSNP: rs776367736
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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 RCV001480125 SCV001684439 likely benign Epidermodysplasia verruciformis 2020-11-27 criteria provided, single submitter clinical testing

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