ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) (rs78993751)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203059 SCV000257604 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Mendelics RCV000990979 SCV001142059 benign Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001358088 SCV001553737 uncertain significance not provided no assertion criteria provided clinical testing

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