ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1812C>T (p.His604=)

gnomAD frequency: 0.00021  dbSNP: rs140391156
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029470 SCV002305988 likely benign not provided 2022-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498053 SCV002804950 likely benign Focal segmental glomerulosclerosis 3, susceptibility to 2022-05-12 criteria provided, single submitter clinical testing

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