ClinVar Miner

Submissions for variant NM_012471.3(TRPC5):c.840C>T (p.Asp280=)

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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 RCV003432397 SCV004167476 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TRPC5: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003901079 SCV004715871 likely benign TRPC5-related disorder 2022-01-05 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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