ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) (rs782327280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718313 SCV000849175 likely benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000633498 SCV000754733 benign Adrenoleukodystrophy 2017-08-15 criteria provided, single submitter clinical testing

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