ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1357+9C>A

gnomAD frequency: 0.00011  dbSNP: rs372800803
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
Preventiongenetics, part of Exact Sciences RCV000245289 SCV000304572 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001410334 SCV001612380 likely benign Supravalvar aortic stenosis 2023-10-24 criteria provided, single submitter clinical testing

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