ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3465-40C>T

gnomAD frequency: 0.11767  dbSNP: rs7279052
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719921 SCV001949306 benign not provided 2018-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719921 SCV005276713 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147113 SCV000194473 likely benign not specified no assertion criteria provided clinical testing

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