ClinVar Miner

Submissions for variant NC_000010.11:g.(?_43100459)_(43102629_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466077 SCV000563822 uncertain significance Multiple endocrine neoplasia, type 2 2016-11-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-3 of the RET gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletion of exons 2-3 has not been reported in the literature in individuals with a RET-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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