ClinVar Miner

Submissions for variant NM_000324.3(RHAG):c.836G>A (p.Gly279Glu)

dbSNP: rs121918587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004595881 SCV005088817 likely pathogenic Overhydrated hereditary stomatocytosis 2024-02-19 criteria provided, single submitter clinical testing This variant is predicted to be damaging by in-silico missense prediction tools (REVEL, AlphaMissense, SIFT and Polyphen2). The variant has been reported in the literature in association with Rh-null phenotype [PMID: 9716608, 9454778].
OMIM RCV000013935 SCV000034182 pathogenic Rh-null, regulator type 1998-02-15 no assertion criteria provided literature only

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