ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)

gnomAD frequency: 0.03116  dbSNP: rs398124605
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173025 SCV000114844 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173025 SCV000152049 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224466 SCV000281555 likely benign not provided 2014-12-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224466 SCV000604543 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078975 SCV000636701 benign Nance-Horan syndrome 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313835 SCV000847954 benign Inborn genetic diseases 2019-09-13 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.
GeneDx RCV000224466 SCV001900036 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224466 SCV005209098 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224466 SCV001798833 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224466 SCV001975178 likely benign not provided no assertion criteria provided clinical testing

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