Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000123046 | SCV000840467 | likely benign | PTEN hamartoma tumor syndrome | 2018-04-06 | reviewed by expert panel | curation | PTEN c.235G>A (p.A79T) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). BS1: Allele frequency of 0.0045 (0.45%, 9/1984 alleles) in the GME variome. (PMID 27428751) BS2_P: Meets criteria for BS2 (observed in the homozygous state in at least one healthy or PHTS-unaffected individual) but BS1 is also applied. (Internal laboratory contributor(s) SCV000222198.12) PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. |
Invitae | RCV000123046 | SCV000166341 | benign | PTEN hamartoma tumor syndrome | 2019-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000129085 | SCV000183790 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-11 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification |
Gene |
RCV000034594 | SCV000222198 | likely benign | not provided | 2018-07-18 | 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. |
Genomic Diagnostic Laboratory, |
RCV000123046 | SCV000257666 | uncertain significance | PTEN hamartoma tumor syndrome | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409443 | SCV000487786 | uncertain significance | Cowden syndrome 1 | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515193 | SCV000611427 | uncertain significance | Endometrial carcinoma; Macrocephaly/autism syndrome; Meningioma, familial; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL association with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Cutaneous malignant melanoma 1 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000626250 | SCV000746903 | uncertain significance | Macrocephaly/autism syndrome | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000034594 | SCV000806056 | uncertain significance | not provided | 2014-09-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000129085 | SCV000822140 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000123046 | SCV000838417 | uncertain significance | PTEN hamartoma tumor syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000034594 | SCV000888591 | likely benign | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing | |
Color | RCV000129085 | SCV000902713 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-11 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001257777 | SCV001434590 | uncertain significance | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034594 | SCV000043462 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Al |
RCV000409443 | SCV000577862 | pathogenic | Cowden syndrome 1 | 2017-05-19 | no assertion criteria provided | clinical testing | CMT panel and gene duplication assays were negative and investigative exome sequencing was conducted. Clinical presentation is 80% match with Cowden Syndrome (exception unilateral pes cavus). |