ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1269+1G>A (rs773401248)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671502 SCV000796484 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-12-18 criteria provided, single submitter clinical testing

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