ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1414+24C>T

gnomAD frequency: 0.60222  dbSNP: rs28763986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657020 SCV001867077 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658385 SCV001876007 benign Cutis laxa, autosomal dominant 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001657020 SCV005272954 benign not provided criteria provided, single submitter not provided

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