ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.864C>T (p.Thr288=)

gnomAD frequency: 0.00051  dbSNP: rs150775570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193625 SCV000247850 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000931381 SCV001077047 benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460976 SCV002754885 likely benign Inborn genetic diseases 2018-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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