ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1096+12TG[20]

dbSNP: rs10579871
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000322372 SCV000469888 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293893 SCV000469889 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293893 SCV000469896 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322372 SCV000469897 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001540654 SCV001758560 benign not provided 2019-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000322372 SCV002347152 benign Supravalvar aortic stenosis 2025-01-30 criteria provided, single submitter clinical testing

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