Submissions for variant NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)

gnomAD frequency: 0.00001  dbSNP: rs373783514

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000123342	SCV000166661	likely benign	Familial cancer of breast	2025-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000164965	SCV000215657	likely benign	Hereditary cancer-predisposing syndrome	2014-07-29	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	RCV000123342	SCV000488091	likely benign	Familial cancer of breast	2015-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000430555	SCV000524582	likely benign	not specified	2017-08-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000164965	SCV000690915	likely benign	Hereditary cancer-predisposing syndrome	2017-08-20	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000123342	SCV004019632	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.
CeGaT Center for Human Genetics Tuebingen	RCV003422008	SCV004141319	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PALB2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004530059	SCV004740693	likely benign	PALB2-related disorder	2019-04-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).