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
Invitae RCV000114672 SCV000153932 benign Familial cancer of breast 2019-12-31 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.
Ambry Genetics RCV000129841 SCV000184657 benign Hereditary cancer-predisposing syndrome 2014-11-24 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;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
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, complementation group N 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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
Color RCV000129841 SCV000686082 benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121749 SCV000807118 benign not specified 2017-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757594 SCV000885884 benign not provided 2018-01-29 criteria provided, single submitter clinical testing
ITMI RCV000121749 SCV000085947 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000129841 SCV000788097 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000757594 SCV001193041 benign not provided 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Melissa DeRycke, Yukihide Momozawa.

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