ClinVar Miner

Submissions for variant NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) (rs387906496)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000012066 SCV001167277 pathogenic Adrenoleukodystrophy 2019-09-11 criteria provided, single submitter clinical testing
OMIM RCV000012066 SCV000032300 pathogenic Adrenoleukodystrophy 1998-06-30 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000675191 SCV000800832 likely pathogenic not provided 2017-10-03 no assertion criteria provided clinical testing

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