ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)

dbSNP: rs1555013332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209931 SCV000265571 pathogenic Autism, susceptibility to, 17 2016-11-10 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV005425812 SCV006099218 pathogenic not provided 2025-05-01 criteria provided, single submitter clinical testing SHANK2: PS2, PVS1:Strong, PM2, PS4:Moderate

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