ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)

gnomAD frequency: 0.00733  dbSNP: rs111759069
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259133 SCV000224586 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000173468 SCV000280667 benign not provided 2016-05-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000259133 SCV000595670 benign not specified 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV000173468 SCV001012212 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173468 SCV003917357 benign not provided 2023-10-01 criteria provided, single submitter clinical testing MAGEL2: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000173468 SCV001798350 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000259133 SCV001929952 benign not specified no assertion criteria provided clinical testing

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