ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly) (rs63751656)

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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) RCV000076214 SCV000107231 pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Variant causes splicing aberration leading to frameshift: full inactivation of variant allele
Ambry Genetics RCV000491028 SCV000580548 likely pathogenic Hereditary cancer-predisposing syndrome 2019-07-03 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Functionally-validated splicing mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985797 SCV001134343 uncertain significance not provided 2019-04-14 criteria provided, single submitter clinical testing

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