ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2032C>T (p.Leu678=)

gnomAD frequency: 0.00007  dbSNP: rs376189676
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215668 SCV000275476 likely benign Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086211 SCV000290821 likely benign Familial cancer of breast 2024-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000215668 SCV000690822 likely benign Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000842681 SCV000984711 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485421 SCV002797957 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2021-09-06 criteria provided, single submitter clinical testing

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