ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1607+20T>C

dbSNP: rs1555071308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584496 SCV000687315 likely benign Hereditary cancer-predisposing syndrome 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060576 SCV002454788 likely benign Ataxia-telangiectasia syndrome 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584496 SCV004849041 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-14 criteria provided, single submitter clinical testing The c.1607+20T>C intronic alteration consists of a T to C substitution 0 nucleotides after coding exon 9 in the ATM gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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