ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)

gnomAD frequency: 0.00001  dbSNP: rs576187743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192626 SCV000248489 uncertain significance not specified 2015-07-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287841 SCV001474578 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2019-10-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430747 SCV004152040 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PCNT: BP4, BP7
Invitae RCV003430747 SCV004272082 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing

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