ClinVar Miner

Submissions for variant NC_000002.12:g.(?_50538233)_(50538656_?)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 RCV001031131 SCV001194437 uncertain significance Pitt-Hopkins-like syndrome 2 2019-05-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 11 of the NRXN1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with NRXN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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