ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2794G>A (p.Val932Met) (rs45624036)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121760 SCV000149999 benign not specified 2016-10-03 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.
Invitae RCV000114559 SCV000153851 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116090 SCV000172810 benign Hereditary cancer-predisposing syndrome 2014-08-05 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
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114559 SCV000268018 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
PreventionGenetics,PreventionGenetics RCV000121760 SCV000314374 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000116090 SCV000396087 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000116090 SCV000576428 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121760 SCV000604595 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514905 SCV000609868 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Color RCV000116090 SCV000685979 benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121760 SCV000860262 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Mendelics RCV000114559 SCV001139997 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514905 SCV001150777 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001118197 SCV001276463 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ITMI RCV000121760 SCV000085958 not provided not specified 2013-09-19 no assertion provided reference population
PALB2 database RCV000114560 SCV000148506 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
Pathway Genomics RCV000114559 SCV000207344 benign Familial cancer of breast 2014-11-06 no assertion criteria provided clinical testing
True Health Diagnostics RCV000116090 SCV000788093 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000514905 SCV001193291 likely benign not provided 2019-09-18 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Andreas Laner, Carlos Vaccaro, Marc Tischkowitz, Melissa DeRycke.

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