ClinVar Miner

Submissions for variant NM_001372123.1(IKZF5):c.-280C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514628 SCV001722520 benign Deficiency of 2-methylbutyryl-CoA dehydrogenase 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001615190 SCV001839634 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17143180)

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