ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)

dbSNP: rs1567499068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev RCV000735815 SCV000778866 pathogenic Obesity; Brachydactyly; Short stature; Pigmentary retinopathy; Intellectual disability; Abnormal speech pattern criteria provided, single submitter research

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