ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1435del (p.Thr479fs)

dbSNP: rs2084270803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Functional Genomics Laboratory, Institute of Genome Research RCV001263465 SCV001441537 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-10-27 criteria provided, single submitter research

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