ClinVar Miner

Submissions for variant NC_000010.10:g.(?_43617300)_(43623793_?)dup

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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 RCV001316561 SCV001507188 uncertain significance Multiple endocrine neoplasia, type 2 2014-12-28 criteria provided, single submitter clinical testing In summary, because the exact 3' boundary of this variant has not been determined, and whether this duplication occurs in tandem is not known, the impact of this duplication on RET protein function can not be unequivocally established. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change has not been published in the literature, and gross duplications in RET have not been reported. This sequence change is a gross duplication of the genomic region encompassing exons 16-20 of the RET gene. This duplication extends to the edge of the assayed region, and the 3' boundary of this event is not known.

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