Submissions for variant NM_000051.4(ATM):c.4436+10A>G

gnomAD frequency: 0.00001  dbSNP: rs878853509

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230380	SCV000282959	likely benign	Ataxia-telangiectasia syndrome	2024-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000429871	SCV000521754	likely benign	not specified	2015-12-03	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.
Color Diagnostics, LLC DBA Color Health	RCV000582282	SCV000687545	likely benign	Hereditary cancer-predisposing syndrome	2017-09-05	criteria provided, single submitter	clinical testing
Counsyl	RCV000230380	SCV000797762	likely benign	Ataxia-telangiectasia syndrome	2018-02-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230380	SCV001263905	uncertain significance	Ataxia-telangiectasia syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Myriad Genetics, Inc.	RCV004591058	SCV005085075	likely benign	Familial cancer of breast	2024-05-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.