ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465391 SCV002760058 pathogenic Phelan-McDermid syndrome 2022-11-29 criteria provided, single submitter research
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV002465391 SCV003927801 likely pathogenic Phelan-McDermid syndrome 2023-04-01 no assertion criteria provided clinical testing

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