ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8010+185_8010+186del

gnomAD frequency: 0.00035  dbSNP: rs984385407
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583953 SCV000687807 likely benign Hereditary cancer-predisposing syndrome 2016-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000673390 SCV000798588 likely benign Ataxia-telangiectasia syndrome 2018-03-14 criteria provided, single submitter clinical testing

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