ClinVar Miner

Submissions for variant NM_001366145.2(TRPM3):c.2208G>A (p.Thr736=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003425682 SCV004157811 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRPM3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004554222 SCV004731974 benign TRPM3-related disorder 2019-08-21 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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