ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2958del (p.Ser987fs)

dbSNP: rs1060499934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000455050 SCV000540912 pathogenic Schaaf-Yang syndrome 2017-03-09 criteria provided, single submitter research

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