ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup)

dbSNP: rs768384701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560757 SCV001783228 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing In-frame DUPLICATION of 7 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843593 SCV002103091 uncertain significance Schaaf-Yang syndrome 2021-09-06 criteria provided, single submitter clinical testing PM4

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