ClinVar Miner

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

gnomAD frequency: 0.00604  dbSNP: rs184420466
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001142675 SCV001474226 benign Microcephalic osteodysplastic primordial dwarfism type II 2023-11-11 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000081356 SCV001984354 benign not specified 2020-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000437760 SCV004152029 benign not provided 2023-08-01 criteria provided, single submitter clinical testing PCNT: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000437760 SCV001800437 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000437760 SCV001967609 likely benign not provided no assertion criteria provided clinical testing

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