ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)

gnomAD frequency: 0.06491  dbSNP: rs150688899
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082794 SCV000114842 benign not specified 2013-04-24 criteria provided, single submitter clinical testing
Invitae RCV000549596 SCV000636699 benign Nance-Horan syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311744 SCV000846141 benign Inborn genetic diseases 2014-12-13 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.
GeneDx RCV001573385 SCV001887574 benign not provided 2019-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 21559051)
Genetic Services Laboratory, University of Chicago RCV000082794 SCV000152047 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573385 SCV001799190 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000082794 SCV001930006 benign not specified no assertion criteria provided clinical testing

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