ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1641G>A (p.Val547=)

gnomAD frequency: 0.00011  dbSNP: rs375173164
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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 RCV000914541 SCV001059721 likely benign not provided 2021-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502758 SCV002798484 likely benign Focal segmental glomerulosclerosis 3, susceptibility to 2021-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902934 SCV004727010 likely benign CD2AP-related disorder 2019-08-05 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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