Submissions for variant NM_001184.4(ATR):c.1620C>T (p.Tyr540=)

dbSNP: rs763088062

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001146904	SCV001307668	uncertain significance	Seckel syndrome 1	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001439040	SCV001641923	likely benign	not provided	2023-06-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402517	SCV002708039	likely benign	Inborn genetic diseases	2022-04-04	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	RCV001439040	SCV004148508	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ATR: BP4, BP7