ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1572A>G (p.Ser524=) (rs45472400)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488265 SCV000604600 benign not provided 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000127311 SCV000212781 likely benign Hereditary cancer-predisposing syndrome 2016-01-26 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114480 SCV000268033 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488265 SCV000575047 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing
Color RCV000127311 SCV000685888 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000212796 SCV000170872 benign not specified 2013-11-05 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 RCV000127311 SCV000396109 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261837 SCV000396110 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000127311 SCV000576466 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000114480 SCV000166645 benign Familial cancer of breast 2018-01-09 criteria provided, single submitter clinical testing
PALB2 database RCV000114480 SCV000148426 benign Familial cancer of breast 2012-10-18 no assertion criteria provided literature only
PALB2 database RCV000114481 SCV000148427 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
PreventionGenetics RCV000212796 SCV000807077 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212796 SCV000601735 benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000488265 SCV000889576 benign not provided 2017-05-12 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000127311 SCV000788085 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing

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