ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.1209G>A (p.Lys403=)

gnomAD frequency: 0.00558  dbSNP: rs76467743
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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 RCV000630752 SCV000751719 benign Epidermodysplasia verruciformis 2024-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710158 SCV005253040 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935749 SCV004750788 benign TMC8-related disorder 2023-12-06 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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