ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.601G>A (p.Val201Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710403 SCV000840615 benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718913 SCV000849777 benign History of neurodevelopmental disorder 2017-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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