ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1413T>G (p.Ala471=) (rs34736117)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299879 SCV000445468 benign Tumor susceptibility linked to germline BAP1 mutations 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000422693 SCV000521676 benign not specified 2016-04-21 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.
Invitae RCV000299879 SCV000563726 benign Tumor susceptibility linked to germline BAP1 mutations 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566867 SCV000664589 benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color RCV000566867 SCV000682574 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000299879 SCV001157040 benign Tumor susceptibility linked to germline BAP1 mutations 2019-03-04 criteria provided, single submitter clinical testing

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