ClinVar Miner

Submissions for variant NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)

gnomAD frequency: 0.43599  dbSNP: rs3784678
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247174 SCV000306748 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554503 SCV001775749 benign Congenital dyserythropoietic anemia type type 1B 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001725145 SCV001960272 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29031773)
Labcorp Genetics (formerly Invitae), Labcorp RCV001725145 SCV002510027 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725145 SCV005296161 benign not provided criteria provided, single submitter not provided

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