ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3556+4_3556+8del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020600 SCV001182099 likely pathogenic Hereditary cancer-predisposing syndrome 2019-10-31 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);RNA Studies

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