ClinVar Miner

Submissions for variant NM_000501.3(ELN):c.-70G>C

dbSNP: rs537200597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393115 SCV000469855 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340317 SCV000469857 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481235 SCV002786869 uncertain significance Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2021-10-08 criteria provided, single submitter clinical testing

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