ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.897T>C (p.Ser299=)

gnomAD frequency: 0.00002  dbSNP: rs180177095
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419649 SCV000516028 likely benign not specified 2017-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000114668 SCV000561142 likely benign Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566337 SCV000666847 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 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 RCV000566337 SCV000686080 likely benign Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing
Counsyl RCV000114668 SCV000786204 likely benign Familial cancer of breast 2018-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000858848 SCV001134560 likely benign not provided 2018-09-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858848 SCV001150872 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118310 SCV001276583 uncertain significance Fanconi anemia complementation group N 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798304 SCV002043609 likely benign Breast and/or ovarian cancer 2020-07-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000114668 SCV004019658 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 RCV000114668 SCV001193036 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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