ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6199-5T>A

dbSNP: rs1555114533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569340 SCV000665236 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-26 criteria provided, single submitter clinical testing The c.6199-5T>A intronic variant results from a T to A substitution 5 nucleotides upstream from coding exon 42 in the ATM gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697173 SCV000825770 likely benign Ataxia-telangiectasia syndrome 2024-07-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569340 SCV000913093 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-10 criteria provided, single submitter clinical testing

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