ClinVar Miner

Submissions for variant NC_000016.10:g.67660292_67660309del

dbSNP: rs1185708088
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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 RCV001960421 SCV002220784 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-07-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.173_190del, results in the deletion of 6 amino acid(s) of the ACD protein (p.Lys58_Pro63del), but otherwise preserves the integrity of the reading frame. 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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