ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2784G>A (p.Val928=)

gnomAD frequency: 0.00001  dbSNP: rs763411245
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002528334 SCV000633377 likely benign Familial cancer of breast 2024-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016600 SCV001177566 likely benign Hereditary cancer-predisposing syndrome 2019-05-14 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.
Color Diagnostics, LLC DBA Color Health RCV001016600 SCV001339500 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490997 SCV002796723 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2021-09-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000547116 SCV004222316 likely benign not provided 2022-11-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000547116 SCV001193287 uncertain significance not provided 2018-08-25 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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