ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3571C>T (p.Leu1191=)

gnomAD frequency: 0.00003  dbSNP: rs370240856
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV000193051 SCV000248467 uncertain significance not specified 2015-03-23 criteria provided, single submitter clinical testing

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