ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) (rs193922096)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029287 SCV000051933 likely benign Adrenoleukodystrophy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000029287 SCV000630001 likely benign Adrenoleukodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716209 SCV000847046 likely benign History of neurodevelopmental disorder 2016-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029287 SCV001332604 likely benign Adrenoleukodystrophy 2017-06-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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