ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1218406)_(1218509_?)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 RCV001384398 SCV001583867 pathogenic Peutz-Jeghers syndrome 2020-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Similar deletions of exon 2 have been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 22775437, 17924967). It has also been observed to segregate with disease in related individuals. This variant is an in-frame deletion of the genomic region encompassing exon 2 of the STK11 gene. It preserves the integrity of the reading frame.

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