ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) (rs184420466)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081356 SCV000113287 benign not specified 2013-08-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081356 SCV000194519 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437760 SCV000511633 likely benign not provided 2016-09-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000081356 SCV000728925 benign not specified 2017-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000437760 SCV001107169 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142675 SCV001303148 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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