ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) (rs45516100)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000114613 SCV000153917 benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162360 SCV000212664 benign Hereditary cancer-predisposing syndrome 2014-11-19 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;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;In silico models in agreement (benign)
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114613 SCV000268036 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
PreventionGenetics,PreventionGenetics RCV000250631 SCV000314377 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321267 SCV000396074 benign Fanconi anemia, complementation group N 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000162360 SCV000396075 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000250631 SCV000604593 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Color RCV000162360 SCV000686027 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
PALB2 database RCV000114614 SCV000148560 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
True Health Diagnostics RCV000162360 SCV000788096 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000857374 SCV001193388 benign not provided 2019-08-07 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Maximiliano Zeballos.

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