ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)

gnomAD frequency: 0.00007  dbSNP: rs587784322
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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 RCV000147236 SCV000194605 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2013-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147236 SCV000896824 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002225452 SCV002504385 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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