ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)

gnomAD frequency: 0.00053  dbSNP: rs145005596
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179566 SCV000231830 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179566 SCV000248173 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317057 SCV000851916 benign Inborn genetic diseases 2017-06-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000876610 SCV001019203 benign Nance-Horan syndrome 2023-12-23 criteria provided, single submitter clinical testing

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