ClinVar Miner

Submissions for variant NC_000010.11:g.(?_87862043)_(87863770_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033741 SCV001197048 uncertain significance PTEN hamartoma tumor syndrome 2022-09-06 criteria provided, single submitter clinical testing This variant is a copy number gain that occurs in a non-coding region of the PTEN gene. It does not change the encoded amino acid sequence of the PTEN protein. This variant has not been reported in the literature in individuals affected with PTEN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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