ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.2191-4G>A

gnomAD frequency: 0.00006  dbSNP: rs371779934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416184 SCV001618360 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493979 SCV002799199 likely benign Focal segmental glomerulosclerosis 1 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946091 SCV004764123 likely benign ACTN4-related disorder 2019-11-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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