ClinVar Miner

Submissions for variant NM_000249.3:c.512_513insAlu

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biologie des Tumeurs Solides,CHU de Montpellier RCV000754776 SCV000864261 pathogenic Lynch syndrome I 2018-05-23 criteria provided, single submitter clinical testing This variant was identified in 3 DNA samples from patients with Lynch syndrome in the same family. It was not detected in an unaffected member's DNA sample from the same family.

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