ClinVar Miner

Submissions for variant NC_000010.11:g.(?_43100449)_(43102639_?)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 RCV000809308 SCV000949455 likely pathogenic Multiple endocrine neoplasia, type 2 2018-09-26 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the RET gene. It preserves the integrity of the reading frame. This variant has been observed to segregate with Hirschsprung's disease in a family (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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