Submissions for variant NM_001184.4(ATR):c.2946C>T (p.Phe982=)

gnomAD frequency: 0.00037  dbSNP: rs138061993

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001147704	SCV001308545	uncertain significance	Seckel syndrome 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001474966	SCV001679145	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001819853	SCV002071309	likely benign	not specified	2020-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436723	SCV002747908	likely benign	Inborn genetic diseases	2022-02-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV001474966	SCV004148502	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ATR: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003928747	SCV004745728	likely benign	ATR-related disorder	2019-03-08	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).