ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)

gnomAD frequency: 0.00437  dbSNP: rs138628273
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173469 SCV000224587 benign not specified 2014-08-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173469 SCV000247884 likely benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000421322 SCV000511703 likely benign not provided 2016-11-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Fulgent Genetics, Fulgent Genetics RCV000755643 SCV000883042 likely benign Prader-Willi syndrome; Schaaf-Yang syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000421322 SCV001015230 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000421322 SCV001752174 benign not provided 2021-06-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000421322 SCV003917356 benign not provided 2024-02-01 criteria provided, single submitter clinical testing MAGEL2: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000421322 SCV001797553 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000173469 SCV001919827 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000173469 SCV001932154 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000421322 SCV001967146 likely benign not provided no assertion criteria provided clinical testing

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