ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.1415G>C (p.Ser472Thr)

gnomAD frequency: 0.32002  dbSNP: rs2411837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002462072 SCV000846123 benign Inborn genetic diseases 2016-03-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001644786 SCV001856002 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644786 SCV005293651 benign not provided criteria provided, single submitter not provided

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