ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1218407)_(1222016_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032309 SCV001195616 pathogenic Peutz-Jeghers syndrome 2019-10-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Sub-genic deletion of exons 2-3 has been determined to be pathogenic (PMID: 20435009, 20623358, 16287113, 22775437, 25841653, 21118512). Therefore, deletions that fully encompass that region are also expected to be pathogenic. This variant has been observed in an individual affected with Peutz-Jeghers syndrome (PMID: 17924967). This variant is an in-frame deletion of the genomic region encompassing exons 2-7 of the STK11 gene. It preserves the integrity of the reading frame.

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