ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7398G>A (p.Glu2466=)

gnomAD frequency: 0.00679  dbSNP: rs114739559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000958147 SCV000517885 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Invitae RCV000958147 SCV001104973 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138577 SCV001298639 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-09-25 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 RCV001138577 SCV003799661 benign Microcephalic osteodysplastic primordial dwarfism type II 2023-09-21 criteria provided, single submitter clinical testing

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