ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) (rs1555529088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483312 SCV000565952 pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing The c.1807dupT variant ispredicted to cause loss of normal protein function through protein truncation. Although thisduplication has not been previously reported to our knowledge, it is expected to be apathogenic variant.

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