ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.277+29G>C

dbSNP: rs2112649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666744 SCV001884591 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253941 SCV002524528 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594474 SCV005087364 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 82% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 76. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001666744 SCV005310910 benign not provided criteria provided, single submitter not provided

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