Submissions for variant NM_024675.4(PALB2):c.2749-18C>T

gnomAD frequency: 0.00055  dbSNP: rs182194007

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212817	SCV000170859	benign	not specified	2014-01-20	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.
Color Diagnostics, LLC DBA Color Health	RCV000127298	SCV000685973	likely benign	Hereditary cancer-predisposing syndrome	2015-04-22	criteria provided, single submitter	clinical testing
Counsyl	RCV000114555	SCV000786016	likely benign	Familial cancer of breast	2018-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679766	SCV000807096	likely benign	not provided	2016-11-02	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000679766	SCV002010967	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000114555	SCV002403088	benign	Familial cancer of breast	2024-01-31	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212817	SCV002551650	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000127298	SCV002749449	likely benign	Hereditary cancer-predisposing syndrome	2019-10-14	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149784	SCV003838711	likely benign	Breast and/or ovarian cancer	2023-06-12	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000114555	SCV004019624	benign	Familial cancer of breast	2023-03-31	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	RCV004764763	SCV005374668	likely benign	Hereditary breast ovarian cancer syndrome	2024-08-13	criteria provided, single submitter	curation	According to the ClinGen ACMG PALB2 v1.1.0 criteria we chose these criteria: BP4 (supporting benign): SpliceAI < 0,1, BS1 (strong benign): MAF 0,02989% in gnomAD V2,0,05% in gnomAD V3
University of Washington Department of Laboratory Medicine, University of Washington	RCV000127298	SCV000265336	likely benign	Hereditary cancer-predisposing syndrome	2015-12-01	no assertion criteria provided	clinical testing
Leiden Open Variation Database	RCV000679766	SCV001193283	likely benign	not provided	2019-05-13	no assertion criteria provided	curation	Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.