ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.734-54C>T

gnomAD frequency: 0.05568  dbSNP: rs12984794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616298 SCV001839134 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253892 SCV002524539 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001616298 SCV005310919 benign not provided criteria provided, single submitter not provided

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