ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8268+22_8268+25del

dbSNP: rs746285826
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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 RCV000776304 SCV000911611 likely benign Hereditary cancer-predisposing syndrome 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061103 SCV002438541 likely benign Ataxia-telangiectasia syndrome 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776304 SCV004849249 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing The c.8268+22_8268+25delAGTT alteration is located in Intron 56 (E) of the ATM gene. This alteration consists of a deletion of 4 nucleotides at nucleotide position c.826822 Intron 56 (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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