ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4776+2T>A (rs587781927)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412136 SCV000486458 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-03 criteria provided, single submitter clinical testing
Color RCV000775841 SCV000910312 likely pathogenic Hereditary cancer-predisposing syndrome 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775841 SCV001184839 pathogenic Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Functionally-validated splicing mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030531 SCV001193479 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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