ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)

gnomAD frequency: 0.00004  dbSNP: rs141570833
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162543 SCV000212947 likely benign Hereditary cancer-predisposing syndrome 2014-11-04 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 RCV001030401 SCV000259571 likely benign Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162543 SCV000686020 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506618 SCV000699586 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588828 SCV000888372 likely benign not provided 2022-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000588828 SCV001881766 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162543 SCV002530764 likely benign Hereditary cancer-predisposing syndrome 2021-03-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002498486 SCV002813103 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2022-04-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030401 SCV001193377 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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