ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) (rs152451)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128962 SCV000172843 benign Hereditary cancer-predisposing syndrome 2014-11-18 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121747 SCV000230430 benign not specified 2014-10-27 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114486 SCV000268003 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000128962 SCV000292089 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121747 SCV000314370 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395533 SCV000396107 benign Fanconi anemia, complementation group N 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000128962 SCV000396108 benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121747 SCV000604592 benign not specified 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV000114486 SCV001000426 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121747 SCV000085945 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV000755593 SCV001193136 benign not provided 2019-08-07 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Maximiliano Zeballos, Yukihide Momozawa.

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