ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.652-55G>T

gnomAD frequency: 0.04927  dbSNP: rs56737532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001709325 SCV001937407 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253972 SCV002524535 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709325 SCV005310916 benign not provided criteria provided, single submitter not provided

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