ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter)

dbSNP: rs1327654017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221858 SCV002499111 likely pathogenic Autism, susceptibility to, 17 2022-03-09 criteria provided, single submitter clinical testing PVS1 PM2

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