ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) (rs1555138291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000722036 SCV000853213 likely pathogenic Glioblastoma 2018-07-17 criteria provided, single submitter clinical testing This is an nonsense alteration in which a G is replaced by an A at nucleotide 8535 that is predicted to change the Tryptophan to a premature stop at codon 2845. Classification criteria: PVS1, PM2.
Counsyl RCV000671076 SCV000796017 likely pathogenic Ataxia-telangiectasia syndrome 2017-11-30 criteria provided, single submitter clinical testing

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