ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser)

gnomAD frequency: 0.00969  dbSNP: rs2233066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146263 SCV000193526 likely benign not specified 2014-01-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514433 SCV000610930 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000514433 SCV001026069 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514433 SCV001777264 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing

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