ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.336A>C (p.Pro112=)

gnomAD frequency: 0.00010  dbSNP: rs201818043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328154 SCV000366455 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV000328154 SCV002802835 likely benign Focal segmental glomerulosclerosis 2 2021-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520658 SCV003512254 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing

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