ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3350+11A>G

gnomAD frequency: 0.00001  dbSNP: rs515726114
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424366 SCV000522037 likely benign not specified 2016-09-07 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 RCV001030411 SCV002206387 likely benign Familial cancer of breast 2023-12-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000424366 SCV002551628 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466432 SCV002761670 uncertain significance Fanconi anemia complementation group N 2020-11-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030411 SCV001193398 likely benign Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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