ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu)

gnomAD frequency: 0.00111  dbSNP: rs181499296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000376621 SCV000345485 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000376621 SCV001594323 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752835 SCV005358991 likely benign TRPM1-related disorder 2024-07-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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