ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.951C>A (p.Asp317Glu)

gnomAD frequency: 0.00014  dbSNP: rs200547692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001572833 SCV002364159 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572833 SCV001797827 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572833 SCV001955366 uncertain significance not provided no assertion criteria provided clinical testing

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