ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)

gnomAD frequency: 0.00008  dbSNP: rs766379688
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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 RCV000500074 SCV000596004 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060133 SCV002445400 benign Nance-Horan syndrome 2024-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352896 SCV004056687 likely benign Inborn genetic diseases 2023-08-19 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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