ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.331+5G>A (rs752135143)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216445 SCV000274529 pathogenic Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Functionally-validated splicing mutation,Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous,Deficient protein function by in vitro/ex vivo assay,Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ,Good segregation with disease (lod 1.5-3 = 5-9 meioses)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761802 SCV000891999 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000410500 SCV000486591 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-29 criteria provided, single submitter clinical testing

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