ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)

gnomAD frequency: 0.00040  dbSNP: rs760039339
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173472 SCV000224590 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000173472 SCV001059847 likely benign not provided 2023-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003137703 SCV003808240 uncertain significance Schaaf-Yang syndrome 2022-12-22 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000173472 SCV001798861 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000173472 SCV001927361 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000173472 SCV001968992 likely benign not provided no assertion criteria provided clinical testing

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