ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1685-14T>A

gnomAD frequency: 0.00001  dbSNP: rs780772404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443095 SCV000532690 likely benign not specified 2016-10-07 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.
Counsyl RCV000663142 SCV000786289 likely benign Familial cancer of breast 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000663142 SCV003468288 likely benign Familial cancer of breast 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663142 SCV004019192 uncertain significance Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Color Diagnostics, LLC DBA Color Health RCV003584602 SCV004357908 likely benign Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing

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