ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)

gnomAD frequency: 0.00089  dbSNP: rs143081492
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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) RCV000082798 SCV000114846 likely benign not specified 2013-06-21 criteria provided, single submitter clinical testing
Invitae RCV002514451 SCV001013503 benign Nance-Horan syndrome 2023-12-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000871790 SCV001741541 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000871790 SCV001800206 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000871790 SCV001972996 likely benign not provided no assertion criteria provided clinical testing

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