ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.171-20A>G

gnomAD frequency: 0.46624  dbSNP: rs10501986
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253773 SCV000310522 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515517 SCV001723604 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001515517 SCV001847383 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838578 SCV002098826 benign Focal segmental glomerulosclerosis 2 2021-09-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000253773 SCV005087475 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 62. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001515517 SCV005236582 benign not provided criteria provided, single submitter not provided

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