ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.807T>C (p.Gly269=)

gnomAD frequency: 0.00002  dbSNP: rs180177093
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218873 SCV000274023 likely benign Hereditary cancer-predisposing syndrome 2015-02-18 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.
GeneDx RCV001704013 SCV000517236 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21165770)
Labcorp Genetics (formerly Invitae), Labcorp RCV000114663 SCV000561107 likely benign Familial cancer of breast 2024-11-26 criteria provided, single submitter clinical testing
Counsyl RCV000114663 SCV000784797 likely benign Familial cancer of breast 2017-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218873 SCV000904037 likely benign Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000218873 SCV002531223 likely benign Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000114663 SCV004019668 benign Familial cancer of breast 2023-03-31 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Leiden Open Variation Database RCV000114663 SCV001193020 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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