ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5918+8A>C

dbSNP: rs1401825950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532576 SCV000622627 likely benign Ataxia-telangiectasia syndrome 2024-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583702 SCV000687655 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583702 SCV004849176 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-12 criteria provided, single submitter clinical testing The c.5918+8A>C intronic alteration consists of a A to C substitution nucleotides after coding exon 38 in the ATM gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004592510 SCV005084031 likely benign Familial cancer of breast 2024-05-28 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701600 SCV005204047 uncertain significance not specified 2024-06-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004701600 SCV005621833 likely benign not specified 2024-01-23 criteria provided, single submitter clinical testing

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