ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.173C>T (p.Ala58Val)

gnomAD frequency: 0.00009  dbSNP: rs369671890
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730495 SCV000730497 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11161832, 20972738)
Eurofins Ntd Llc (ga) RCV000730495 SCV000858237 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730495 SCV001593366 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000730495 SCV002050267 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000730495 SCV002036250 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000730495 SCV002037864 uncertain significance not provided no assertion criteria provided clinical testing

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