ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.82+1G>C

dbSNP: rs2130830261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383978 SCV001583309 pathogenic Supravalvar aortic stenosis 2021-08-28 criteria provided, single submitter clinical testing

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