ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.4230A>G (p.Glu1410=)

gnomAD frequency: 0.00002  dbSNP: rs774962506
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502622 SCV000596283 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Invitae RCV003766835 SCV004625387 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing

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