Submissions for variant NM_004621.6(TRPC6):c.888G>A (p.Thr296=)

gnomAD frequency: 0.00029  dbSNP: rs144891994

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241654	SCV000310531	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106232	SCV001263277	benign	Focal segmental glomerulosclerosis 2	2017-04-27	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics	RCV000241654	SCV001475713	benign	not specified	2019-12-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001459545	SCV001663388	likely benign	not provided	2023-08-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001106232	SCV002806125	likely benign	Focal segmental glomerulosclerosis 2	2022-01-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001459545	SCV005214046	likely benign	not provided		criteria provided, single submitter	not provided