ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2100A>T (p.Ser700=) (rs757145884)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164155 SCV000214771 likely benign Hereditary cancer-predisposing syndrome 2015-05-17 criteria provided, single submitter clinical testing
Color RCV000164155 SCV000685918 likely benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000611803 SCV000729369 benign not specified 2015-05-08 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 RCV000164155 SCV000396102 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347505 SCV000396103 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586181 SCV000699553 uncertain significance not provided 2016-02-15 criteria provided, single submitter clinical testing
Invitae RCV000200038 SCV000253589 likely benign Familial cancer of breast 2017-12-30 criteria provided, single submitter clinical testing

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