ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1096+12TG[18]

dbSNP: rs10579871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352856 SCV000469894 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392594 SCV000469895 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001675874 SCV001895255 benign not provided 2019-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000352856 SCV002420650 benign Supravalvar aortic stenosis 2024-01-31 criteria provided, single submitter clinical testing

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