ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.488C>T (p.Ala163Val)

dbSNP: rs2080268991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772871 SCV001994373 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001772871 SCV003448155 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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