ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1511-2A>G (rs267607962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076184 SCV000107201 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes splicing aberration causing frameshift: full inactivation of variant allele
Ambry Genetics RCV000491325 SCV000580440 pathogenic Hereditary cancer-predisposing syndrome 2018-08-06 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000583875 SCV000691905 pathogenic not provided no assertion criteria provided clinical testing

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