ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) (rs45551636)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000114578 SCV000153916 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121762 SCV000170861 benign not specified 2013-10-14 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.
Ambry Genetics RCV000127300 SCV000212703 benign Hereditary cancer-predisposing syndrome 2014-06-10 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Vantari Genetics RCV000127300 SCV000267064 likely benign Hereditary cancer-predisposing syndrome 2015-10-26 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114578 SCV000268020 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
PreventionGenetics,PreventionGenetics RCV000121762 SCV000314375 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372394 SCV000396078 benign Fanconi anemia, complementation group N 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl RCV000114578 SCV000488456 benign Familial cancer of breast 2016-04-01 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000127300 SCV000576427 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121762 SCV000604596 benign not specified 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000114578 SCV001139992 benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121762 SCV000085960 not provided not specified 2013-09-19 no assertion provided reference population
PALB2 database RCV000114579 SCV000148525 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
Pathway Genomics RCV000114578 SCV000207351 benign Familial cancer of breast 2014-11-06 no assertion criteria provided clinical testing
True Health Diagnostics RCV000127300 SCV000788094 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000755594 SCV001193320 benign not provided 2019-08-07 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Maximiliano Zeballos, Melissa DeRycke.

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