ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs)

dbSNP: rs2147503631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001374750 SCV001439249 pathogenic Microcephalic osteodysplastic primordial dwarfism type II criteria provided, single submitter research

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