ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.1190+7C>T

gnomAD frequency: 0.00149  dbSNP: rs186106384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680140 SCV001899797 benign not provided 2020-06-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821950 SCV002068868 likely benign not specified 2018-04-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001680140 SCV002544747 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SHANK3: BP4, BS1

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