ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.572G>A (p.Gly191Asp)

gnomAD frequency: 0.09487  dbSNP: rs34712518
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511304 SCV001718526 benign Epidermodysplasia verruciformis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001534994 SCV001751968 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534994 SCV005254478 benign not provided criteria provided, single submitter not provided

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