ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3993+4T>C

dbSNP: rs2082390512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040051 SCV001203606 likely benign Ataxia-telangiectasia syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372767 SCV002625587 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-22 criteria provided, single submitter clinical testing The c.3993+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 25 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002372767 SCV004360839 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +4 position of intron 26 of the ATM gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001040051 SCV002081581 uncertain significance Ataxia-telangiectasia syndrome 2021-06-16 no assertion criteria provided clinical testing

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