ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1035T>A (p.Ala345=)

gnomAD frequency: 0.00471  dbSNP: rs34023453
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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 RCV000975112 SCV001122989 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000975112 SCV002512798 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002489429 SCV002798850 likely benign Focal segmental glomerulosclerosis 3, susceptibility to 2021-07-24 criteria provided, single submitter clinical testing

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