ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys)

gnomAD frequency: 0.00055  dbSNP: rs200930841
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194676 SCV000248348 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871529 SCV001013204 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000871529 SCV005206852 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000871529 SCV001800673 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000871529 SCV001930678 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000871529 SCV001970663 likely benign not provided no assertion criteria provided clinical testing

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