ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) (rs45568339)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121759 SCV000149998 likely benign not specified 2017-11-14 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 RCV000114545 SCV000166655 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116089 SCV000185113 benign Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing
Vantari Genetics RCV000116089 SCV000267065 likely benign Hereditary cancer-predisposing syndrome 2015-10-07 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114545 SCV000268014 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Illumina Clinical Services Laboratory,Illumina RCV000116089 SCV000396090 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322970 SCV000396091 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487583 SCV000575045 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121759 SCV000596211 benign not specified 2019-11-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121759 SCV000601765 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121759 SCV000604591 benign not specified 2019-05-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000487583 SCV000609691 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121759 SCV000807092 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000487583 SCV000889583 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Color RCV000116089 SCV000902558 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Mendelics RCV000114545 SCV001140001 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121759 SCV000085957 not provided not specified 2013-09-19 no assertion provided reference population
PALB2 database RCV000114546 SCV000148492 likely benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
Pathway Genomics RCV000114545 SCV000207345 benign Familial cancer of breast 2014-11-06 no assertion criteria provided clinical testing
True Health Diagnostics RCV000116089 SCV000788092 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000487583 SCV001193261 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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