Submissions for variant NM_024675.4(PALB2):c.2337A>C (p.Ser779=)

gnomAD frequency: 0.00001  dbSNP: rs786201651

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164043	SCV000214650	likely benign	Hereditary cancer-predisposing syndrome	2024-04-27	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.
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	RCV000211059	SCV000268049	likely benign	Familial cancer of breast	2015-06-01	criteria provided, single submitter	case-control
Labcorp Genetics (formerly Invitae), Labcorp	RCV000211059	SCV002477901	likely benign	Familial cancer of breast	2022-01-26	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000211059	SCV006091405	benign	Familial cancer of breast	2025-01-16	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.