ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu)

dbSNP: rs113969422
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253544 SCV000310728 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959550 SCV001106463 benign not provided 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000959550 SCV001899492 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253326 SCV002524566 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294158 SCV002587377 benign Focal segmental glomerulosclerosis 2020-11-18 criteria provided, single submitter clinical testing

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