ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.800ACA[1] (p.Asn268del)

dbSNP: rs2100481073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755510 SCV002005035 uncertain significance not provided 2019-01-24 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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