ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.*719del

gnomAD frequency: 0.00003  dbSNP: rs886060742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395340 SCV000458162 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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