ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.949+8_949+19del

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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 RCV003009279 SCV003299830 benign Supravalvar aortic stenosis 2024-01-08 criteria provided, single submitter clinical testing

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