ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.249C>T (p.Phe83=) (rs782628755)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152718 SCV000202104 uncertain significance not provided 2014-02-06 criteria provided, single submitter clinical testing
Invitae RCV001084845 SCV000754734 benign Adrenoleukodystrophy 2020-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084845 SCV001466683 likely benign Adrenoleukodystrophy 2020-08-11 no assertion criteria provided clinical testing

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