ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7211-13C>G

gnomAD frequency: 0.00705  dbSNP: rs116454519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248448 SCV000312499 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001582869 SCV001818357 benign not provided 2021-10-11 criteria provided, single submitter clinical testing
Invitae RCV001582869 SCV002473733 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445819 SCV004174059 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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