ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.447C>T (p.Thr149=)

gnomAD frequency: 0.00252  dbSNP: rs145518596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510226 SCV001717212 benign not provided 2024-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506595 SCV002805778 likely benign Focal segmental glomerulosclerosis 3, susceptibility to 2021-11-24 criteria provided, single submitter clinical testing

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