ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) (rs145077205)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253695 SCV000310525 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328830 SCV000366441 likely benign Focal segmental glomerulosclerosis 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253695 SCV000708727 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV000881512 SCV001024694 benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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