Submissions for variant NM_024675.4(PALB2):c.1188C>T (p.Cys396=)

gnomAD frequency: 0.00001  dbSNP: rs587780817

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000123329	SCV000166637	likely benign	Familial cancer of breast	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163124	SCV000213636	likely benign	Hereditary cancer-predisposing syndrome	2015-03-09	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	RCV000123329	SCV000268039	likely benign	Familial cancer of breast	2015-06-01	criteria provided, single submitter	case-control
GeneDx	RCV001704046	SCV000521750	likely benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26283626)
Color Diagnostics, LLC DBA Color Health	RCV000163124	SCV000685857	likely benign	Hereditary cancer-predisposing syndrome	2015-10-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420289	SCV001442743	likely benign	not specified	2020-10-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000123329	SCV006092729	benign	Familial cancer of breast	2025-01-13	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.