Submissions for variant NM_024675.4(PALB2):c.109-5T>C

gnomAD frequency: 0.00001  dbSNP: rs749299119

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001030121	SCV000757438	likely benign	Familial cancer of breast	2023-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017270	SCV001178324	likely benign	Hereditary cancer-predisposing syndrome	2022-07-22	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	RCV001017270	SCV001734499	likely benign	Hereditary cancer-predisposing syndrome	2022-05-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001706691	SCV001872366	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001017270	SCV002530584	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-01	criteria provided, single submitter	curation
Leiden Open Variation Database	RCV001030121	SCV001192928	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.