ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.925A>G (p.Ile309Val) (rs3809683)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757594 SCV000885884 benign not provided 2018-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129841 SCV000184657 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114672 SCV000267993 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000129841 SCV000686082 benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000121749 SCV000170866 benign not specified 2013-11-01 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.
ITMI RCV000121749 SCV000085947 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000129841 SCV000396122 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335364 SCV000396123 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000129841 SCV000679739 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000114672 SCV000153932 benign Familial cancer of breast 2018-01-25 criteria provided, single submitter clinical testing
PALB2 database RCV000114672 SCV000148619 benign Familial cancer of breast 2012-10-18 no assertion criteria provided literature only
PreventionGenetics RCV000121749 SCV000807118 benign not specified 2017-04-06 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129841 SCV000788097 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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