ClinVar Miner

Submissions for variant NM_018444.4(PDP1):c.*1661del

dbSNP: rs60316663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401886 SCV000475431 uncertain significance Pyruvate dehydrogenase phosphatase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696092 SCV005196028 uncertain significance not provided criteria provided, single submitter not provided

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