ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.546C>T (p.Asn182=)

gnomAD frequency: 0.39136  dbSNP: rs3745859
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250045 SCV000310733 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576718 SCV000677128 benign Focal segmental glomerulosclerosis 1 2017-04-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000576718 SCV000743923 benign Focal segmental glomerulosclerosis 1 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV001513168 SCV001720732 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576718 SCV001768969 benign Focal segmental glomerulosclerosis 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001513168 SCV001889975 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000576718 SCV000733886 benign Focal segmental glomerulosclerosis 1 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250045 SCV001955064 benign not specified no assertion criteria provided clinical testing

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