ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1442+64C>T

gnomAD frequency: 0.14962  dbSNP: rs77822825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671729 SCV001889876 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253943 SCV002524547 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594476 SCV005087888 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 30% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001671729 SCV005310923 benign not provided criteria provided, single submitter not provided

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