ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe)

dbSNP: rs386781907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617630 SCV001842967 benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Invitae RCV001617630 SCV002407563 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495969 SCV002798927 likely benign Prader-Willi syndrome; Schaaf-Yang syndrome 2021-09-17 criteria provided, single submitter clinical testing

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