ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)

dbSNP: rs587784306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147134 SCV000194494 likely benign not specified 2013-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000837243 SCV000567706 benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000614089 SCV000745087 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000837243 SCV001099657 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614089 SCV000734098 likely benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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