Submissions for variant NM_024675.4(PALB2):c.2859T>C (p.Asp953=)

gnomAD frequency: 0.00001  dbSNP: rs515726101

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000114571	SCV000489275	likely benign	Familial cancer of breast	2016-09-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573602	SCV000666920	likely benign	Hereditary cancer-predisposing syndrome	2016-07-09	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.
GeneDx	RCV001697043	SCV000727813	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28779002, 21285249)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000114571	SCV001618984	likely benign	Familial cancer of breast	2023-12-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000114571	SCV004019675	benign	Familial cancer of breast	2023-03-31	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.
Color Diagnostics, LLC DBA Color Health	RCV000573602	SCV004357833	likely benign	Hereditary cancer-predisposing syndrome	2016-06-22	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000114571	SCV001193306	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.