ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)

dbSNP: rs587780817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784795 SCV002016523 pathogenic Fanconi anemia complementation group N 2019-04-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316849 SCV004019733 pathogenic Familial cancer of breast 2023-02-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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