ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)

gnomAD frequency: 0.00074  dbSNP: rs41304731
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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) RCV000194958 SCV000114850 likely benign not specified 2016-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194958 SCV000248174 benign not specified 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000638456 SCV000759980 benign Nance-Horan syndrome 2024-01-27 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572713 SCV001797501 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000194958 SCV001970763 benign not specified no assertion criteria provided clinical testing

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