Submissions for variant NM_024675.4(PALB2):c.2067G>T (p.Ser689=)

dbSNP: rs371149159

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230721	SCV000290824	likely benign	Familial cancer of breast	2024-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001711642	SCV000514028	likely benign	not provided	2018-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564587	SCV000670608	likely benign	Hereditary cancer-predisposing syndrome	2015-09-23	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.
Color Diagnostics, LLC DBA Color Health	RCV000564587	SCV000685916	likely benign	Hereditary cancer-predisposing syndrome	2017-02-13	criteria provided, single submitter	clinical testing
Counsyl	RCV000230721	SCV000785033	likely benign	Familial cancer of breast	2017-03-17	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000230721	SCV004019108	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.