ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) (rs141458731)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000116080 SCV000183791 benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114512 SCV000268008 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000116080 SCV000685925 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000114512 SCV000785441 likely benign Familial cancer of breast 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000417394 SCV000149989 likely benign not specified 2017-12-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000116080 SCV000396100 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405151 SCV000396101 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000114512 SCV000252860 benign Familial cancer of breast 2018-01-09 criteria provided, single submitter clinical testing
Mendelics RCV000116080 SCV000839026 likely benign Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
PALB2 database RCV000114512 SCV000148458 likely benign Familial cancer of breast 2012-07-16 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417394 SCV000601751 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759185 SCV000888364 likely benign not provided 2017-05-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000116080 SCV000788090 likely benign Hereditary cancer-predisposing syndrome 2018-01-30 no assertion criteria provided clinical testing

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