ClinVar Miner

Submissions for variant NM_024675.4(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
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.
Ambry Genetics RCV000116080 SCV000183791 benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Invitae RCV000114512 SCV000252860 benign Familial cancer of breast 2019-12-31 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
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, 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.
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
Mendelics RCV000116080 SCV000839026 likely benign Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759185 SCV000888364 likely benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Mendelics RCV000114512 SCV001140016 likely benign Familial cancer of breast 2019-05-28 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
Leiden Open Variation Database RCV000759185 SCV001193187 likely benign not provided 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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