ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4237-8T>C

gnomAD frequency: 0.00001  dbSNP: rs750427647
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581253 SCV000687533 likely benign Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000628247 SCV000749142 likely benign Ataxia-telangiectasia syndrome 2023-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000842153 SCV000984150 likely benign not provided 2018-04-10 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.
Ambry Genetics RCV000581253 SCV002629680 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-08 criteria provided, single submitter clinical testing The c.4237-8T>C intronic variant results from a T to C substitution 8 nucleotides upstream from coding exon 28 in the ATM gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6469 samples (12938 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 66000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.4237-8T>C remains unclear.
Myriad Genetics, Inc. RCV004592840 SCV005083820 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.

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