ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) (rs1555999948)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000501426 SCV000598126 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2017-03-21 criteria provided, single submitter clinical testing This homozygous variant in PCNT (AR transmission) was identified in a patient with MOPD. Both parents are heterozygous carriers of this variant.

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