ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2109C>T (p.Phe703=)

gnomAD frequency: 0.00032  dbSNP: rs149755814
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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 RCV000363179 SCV000469946 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270892 SCV000469947 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000363179 SCV001004727 likely benign Supravalvar aortic stenosis 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531669 SCV001746908 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing ELN: BP4, BP7
GeneDx RCV001531669 SCV001814317 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238945 SCV005888374 benign not specified 2025-01-04 criteria provided, single submitter clinical testing

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