ClinVar Miner

Submissions for variant NM_013328.4(PYCR2):c.399A>G (p.Thr133=)

gnomAD frequency: 0.00259  dbSNP: rs112885589
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000946562 SCV001092706 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818935 SCV002065001 uncertain significance not specified 2017-09-20 criteria provided, single submitter clinical testing

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