ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1977T>C (p.Asn659=)

gnomAD frequency: 0.05559  dbSNP: rs12986337
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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 RCV000252096 SCV000310722 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576706 SCV000677125 benign Focal segmental glomerulosclerosis 1 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001514789 SCV001722720 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001514789 SCV001908798 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576706 SCV002524557 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing

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