Submissions for variant NM_002907.4(RECQL):c.1215A>C (p.Ala405=)

gnomAD frequency: 0.00110  dbSNP: rs147610182

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001474212	SCV000726984	likely benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000709209	SCV000838638	benign	Hereditary cancer-predisposing syndrome	2023-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV001474212	SCV001678380	likely benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001474212	SCV002047076	benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000709209	SCV002659819	likely benign	Hereditary cancer-predisposing syndrome	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003962815	SCV004780942	likely benign	RECQL-related condition	2022-03-18	criteria provided, single submitter	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).