ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.1294-4G>A

gnomAD frequency: 0.00002  dbSNP: rs190191809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517947 SCV000615847 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398816 SCV001600591 likely benign not provided 2020-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490892 SCV002798716 likely benign Focal segmental glomerulosclerosis 2 2022-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900082 SCV004708659 likely benign TRPC6-related disorder 2022-12-10 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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