ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2256A>G (p.Gly752=)

gnomAD frequency: 0.00193  dbSNP: rs147120218
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212806 SCV000170855 benign not specified 2014-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000130422 SCV000185285 likely benign Hereditary cancer-predisposing syndrome 2018-07-10 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 RCV001030291 SCV000252861 benign Familial cancer of breast 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212806 SCV000596213 benign not specified 2019-08-15 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000130422 SCV000679737 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000130422 SCV000685935 benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000212806 SCV000807086 benign not specified 2017-09-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759187 SCV000888366 benign not provided 2022-07-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000130422 SCV002530677 benign Hereditary cancer-predisposing syndrome 2020-12-28 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212806 SCV002551664 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030291 SCV001193201 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000212806 SCV001808006 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000759187 SCV001905881 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000759187 SCV001956810 likely benign not provided no assertion criteria provided clinical testing

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