ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1482C>T (p.Ala494=)

gnomAD frequency: 0.01419  dbSNP: rs61739261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630761 SCV000751728 benign Epidermodysplasia verruciformis 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710160 SCV005254451 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928046 SCV004741936 benign TMC6-related disorder 2019-10-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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