ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.4004-2A>G

dbSNP: rs2147305680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822840 SCV002072109 pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing

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