ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1747+26C>T

gnomAD frequency: 0.00017  dbSNP: rs371491330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865527 SCV001006512 likely benign Supravalvar aortic stenosis 2023-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432805 SCV004162257 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ELN: BP4, BP7

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