ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.393C>T (p.Tyr131=)

gnomAD frequency: 0.00290  dbSNP: rs143883680
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000630754 SCV000751721 benign Epidermodysplasia verruciformis 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710159 SCV005254483 benign not provided criteria provided, single submitter not provided

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