ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)

gnomAD frequency: 0.00036  dbSNP: rs144513217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500117 SCV000595582 likely benign not specified 2016-09-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000584946 SCV000692823 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing LINS1: BP4, BP7
Ambry Genetics RCV002461259 SCV000848822 likely benign Inborn genetic diseases 2017-01-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000584946 SCV001040846 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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