ClinVar Miner

Submissions for variant NC_000015.10:g.(?_89290203)_(89291724_?)del

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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 RCV000807254 SCV000947297 uncertain significance Fanconi anemia 2018-11-14 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 for this variant, and the functional significance of the affected amino acids is currently unknown. This variant has not been reported in the literature in individuals with FANCI-related disease. This variant is an in-frame deletion of the genomic region encompassing exons 19-20 of the FANCI gene. It preserves the integrity of the reading frame.

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