ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.203T>G (p.Val68Gly)

dbSNP: rs33918343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002466407 SCV002762151 uncertain significance not provided 2022-06-02 criteria provided, single submitter clinical testing Observed in heterozygous state in a small number of individuals with hemolytic anemia (Kumar et al., 2014; Fay et al., 1993); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8280608, 24611675)
OMIM RCV000016792 SCV000037062 other HEMOGLOBIN MANUKAU 2017-12-12 no assertion criteria provided literature only

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