ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)

gnomAD frequency: 0.00024  dbSNP: rs192268080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509480 SCV001716216 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509480 SCV003247542 benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145682 SCV003829438 benign Anemia, congenital dyserythropoietic, type 1a 2023-12-26 criteria provided, single submitter clinical testing

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