ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) (rs138789658)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121743 SCV000170863 benign not specified 2014-01-15 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 RCV000129207 SCV000183956 benign Hereditary cancer-predisposing syndrome 2014-11-25 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;Co-occurence with mutation in same gene (phase unknown)
Invitae RCV000114647 SCV000261906 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114647 SCV000267978 uncertain significance Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000129207 SCV000292124 benign Hereditary cancer-predisposing syndrome 2015-01-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376271 SCV000396135 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.
Illumina Clinical Services Laboratory,Illumina RCV000129207 SCV000396136 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440737 SCV000511038 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000121743 SCV000596217 benign not specified 2019-07-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000129207 SCV000679741 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121743 SCV000807114 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121743 SCV000859745 likely benign not specified 2018-03-04 criteria provided, single submitter clinical testing
ITMI RCV000121743 SCV000085941 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000114647 SCV000207346 benign Familial cancer of breast 2014-11-06 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000440737 SCV001192913 likely benign not provided 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Melissa DeRycke.

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