ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281612 SCV001468940 pathogenic not provided criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001813820 SCV002061765 pathogenic Autism, susceptibility to, 17 2021-12-09 criteria provided, single submitter clinical testing PVS1, PS2, PM2
OMIM RCV001813820 SCV000027087 risk factor Autism, susceptibility to, 17 2010-06-01 no assertion criteria provided literature only

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