ClinVar Miner

Submissions for variant NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)

dbSNP: rs1595503440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853478 SCV000996397 likely pathogenic Congenital dyserythropoietic anemia type type 1B 2019-07-11 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for congenital dyserythropoietic anemia type Ib, autosomal recessive. The following ACMG Tag(s) were applied: PM2; PS3.

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