ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3465-1G>A

gnomAD frequency: 0.00002  dbSNP: rs755084205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000758566 SCV001440981 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2019-01-01 criteria provided, single submitter clinical testing
The Genetics Institute, Rambam Health Care Campus RCV000758566 SCV000886545 pathogenic Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000758566 SCV001432321 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing
OMIM RCV000758566 SCV001478377 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2021-02-02 no assertion criteria provided literature only
GeneReviews RCV000758566 SCV002073953 not provided Microcephalic osteodysplastic primordial dwarfism type II no assertion provided literature only Founder variant in Israeli Druze population

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