ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser)

gnomAD frequency: 0.00001  dbSNP: rs899176705
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376011 SCV001573020 pathogenic Schaaf-Yang syndrome 2020-03-12 criteria provided, single submitter clinical testing

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