ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.-254C>G

gnomAD frequency: 0.08690  dbSNP: rs3824934
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285036 SCV000366466 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.
GeneDx RCV001653480 SCV001869741 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31281825, 19380626, 23999069, 25603901)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294262 SCV002587586 benign Atypical hemolytic-uremic syndrome 2022-08-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653480 SCV005236638 benign not provided criteria provided, single submitter not provided

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