ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.376+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003239112 SCV003936480 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Canonical splice site variant with an unclear effect on protein function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005047485 SCV005667448 uncertain significance Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 2024-06-20 criteria provided, single submitter clinical testing

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