ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.269G>C (p.Arg90Pro)

dbSNP: rs104894867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545665 SCV001765042 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 1307245, 22786811, 8298646, 23871722)
OMIM RCV000011425 SCV000031657 pathogenic Atrophia bulborum hereditaria 1992-10-01 no assertion criteria provided literature only

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