Submissions for variant NM_024675.4(PALB2):c.1272C>T (p.Ala424=)

gnomAD frequency: 0.00003  dbSNP: rs754720030

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163630	SCV000214198	likely benign	Hereditary cancer-predisposing syndrome	2015-01-04	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.
Counsyl	RCV000410129	SCV000488024	likely benign	Familial cancer of breast	2015-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001281734	SCV000533865	likely benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001281734	SCV000601726	likely benign	not provided	2022-07-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000410129	SCV000633268	likely benign	Familial cancer of breast	2025-01-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163630	SCV000685865	likely benign	Hereditary cancer-predisposing syndrome	2015-04-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430438	SCV001737775	likely benign	not specified	2021-06-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478498	SCV002801799	likely benign	Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3	2022-02-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000410129	SCV004019105	benign	Familial cancer of breast	2023-03-30	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000430438	SCV004027085	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing