ClinVar Miner

Submissions for variant ELN, ARG610GLN AND 24-BP DUP, NT1034

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018217 SCV000038496 pathogenic Supravalvar aortic stenosis 2001-11-01 no assertion criteria provided literature only

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