ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-6796_641-6793del (rs1591776808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820161 SCV000960860 pathogenic Ataxia-telangiectasia syndrome 2018-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2017Cysfs*29) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001024838 SCV001186924 pathogenic Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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