ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1871T>G (p.Ile624Ser) (rs1114167870)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492007 SCV000580599 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing 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 satisfying established diagnostic critera for classic disease without a clear mutation;Structural Evidence
Color RCV000492007 SCV001351392 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-09 criteria provided, single submitter clinical testing

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