Submissions for variant NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)

gnomAD frequency: 0.00045  dbSNP: rs138663409

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616809	SCV000726490	likely benign	not specified	2018-01-04	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.
Mendelics	RCV000709210	SCV000838639	likely benign	Hereditary cancer-predisposing syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Cancer Genomics Group, Japanese Foundation For Cancer Research	RCV001030657	SCV001193737	likely benign	Hereditary breast ovarian cancer syndrome	2022-03-30	criteria provided, single submitter	research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003762822	SCV001472450	likely benign	RECON progeroid syndrome	2023-05-25	criteria provided, single submitter	clinical testing
Invitae	RCV001514039	SCV001721784	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001514039	SCV002046966	benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000709210	SCV002725417	benign	Hereditary cancer-predisposing syndrome	2020-08-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.