ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.51C>T (p.Ser17=)

gnomAD frequency: 0.00265  dbSNP: rs376267466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365781 SCV000373881 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003401304 SCV004137198 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SHANK2: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003401304 SCV005190434 uncertain significance not provided criteria provided, single submitter not provided

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