ClinVar Miner

Submissions for variant NC_000016.10:g.67660478T>C

dbSNP: rs1308323945
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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 RCV001978816 SCV002225628 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-03-19 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 ACD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ACD mRNA. The next in-frame methionine is located at codon 11.

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