ClinVar Miner

Submissions for variant NC_000012.12:g.(?_112477651)_(112478015_?)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 RCV000458823 SCV000563923 likely pathogenic RASopathy 2016-11-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-9 of the PTPN11 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. In summary, this variant is a novel deletion that disrupts essential amino acid residues. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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