ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.*1533dup

dbSNP: rs575407872
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354962 SCV000373844 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003401301 SCV004137147 benign not provided 2023-01-01 criteria provided, single submitter clinical testing SHANK2: BS1, BS2

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