Submissions for variant NM_024675.4(PALB2):c.1935G>A (p.Glu645=)

gnomAD frequency: 0.00006  dbSNP: rs141707455

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167184	SCV000218020	likely benign	Hereditary cancer-predisposing syndrome	2016-08-05	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	RCV000114501	SCV000253588	likely benign	Familial cancer of breast	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000427468	SCV000514026	benign	not specified	2015-05-20	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	RCV000167184	SCV000690818	likely benign	Hereditary cancer-predisposing syndrome	2017-08-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000114501	SCV001140021	likely benign	Familial cancer of breast	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000427468	SCV002067047	likely benign	not specified	2021-10-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000167184	SCV002530660	likely benign	Hereditary cancer-predisposing syndrome	2022-01-23	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002477268	SCV002774211	likely benign	not provided	2023-06-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505026	SCV002807827	likely benign	Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3	2021-12-17	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315613	SCV004016510	benign	Breast-ovarian cancer, familial, susceptibility to, 5	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002477268	SCV004141324	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PALB2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004542813	SCV004767290	likely benign	PALB2-related disorder	2019-12-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV002477268	SCV005213522	likely benign	not provided		criteria provided, single submitter	not provided
True Health Diagnostics	RCV000167184	SCV000886696	likely benign	Hereditary cancer-predisposing syndrome	2018-09-06	no assertion criteria provided	clinical testing
Leiden Open Variation Database	RCV000114501	SCV001193170	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.