ClinVar Miner

Submissions for variant NM_020975.4(RET):c.(?_-1)_(*1_?)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 RCV000198928 SCV000255040 uncertain significance Multiple endocrine neoplasia, type 2 2015-06-13 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the RET gene has been identified. This duplication extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. While the exact position of the duplicated exons cannot be determined from this data, the most likely explanation is that it occurs in tandem. While whole gene duplications have not been published in the literature, exon-level duplications of RET have also not been reported. In summary, 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.

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