ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)

dbSNP: rs1057519019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000415720 SCV000282086 likely pathogenic Intellectual disability, autosomal recessive 27 2016-02-29 no assertion criteria provided research Variant c.937G>A was found to be pathogenic by various online software like SIFT, Mutation Taster, Polyphen.

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