ClinVar Miner

Submissions for variant NC_000016.9:g.(?_11647369)_(11647565_?)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 RCV003113605 SCV003793876 uncertain significance Charcot-Marie-Tooth disease type 1C 2021-12-11 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LITAF-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the LITAF gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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