ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2929+9G>A

gnomAD frequency: 0.01479  dbSNP: rs114863461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252668 SCV000312491 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000713743 SCV000563155 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713743 SCV000844372 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445818 SCV004174049 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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