ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.513C>T (p.Leu171=)

gnomAD frequency: 0.00028  dbSNP: rs398124610
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723670 SCV000114853 uncertain significance not provided 2013-08-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082805 SCV000595999 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV002514452 SCV001005986 benign Nance-Horan syndrome 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336241 SCV002642336 likely benign Inborn genetic diseases 2018-07-23 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.
CeGaT Center for Human Genetics Tuebingen RCV000723670 SCV004166617 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NHS: BP4, BP7, BS2

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