ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1291+81C>T

gnomAD frequency: 0.05857  dbSNP: rs7248577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001635800 SCV001847918 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253915 SCV002524545 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001635800 SCV005310921 benign not provided criteria provided, single submitter not provided

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