ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)

dbSNP: rs1555962301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502434 SCV000596363 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2015-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000502434 SCV001523580 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-03-24 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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