ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)

gnomAD frequency: 0.00045  dbSNP: rs575720246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817409 SCV002068177 uncertain significance not specified 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541995 SCV003484455 benign not provided 2024-02-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132538 SCV003814776 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2021-05-31 criteria provided, single submitter clinical testing

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