ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)

dbSNP: rs10590816
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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) RCV000082797 SCV000114845 benign not specified 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082797 SCV000248171 benign not specified 2014-09-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082797 SCV000316925 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000550294 SCV000636702 benign Nance-Horan syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311745 SCV000846778 benign Inborn genetic diseases 2016-03-25 criteria provided, single submitter clinical testing This alteration is classified as 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.

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