ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89767131)_(89799648_?)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 RCV001032506 SCV001195813 pathogenic Fanconi anemia 2019-03-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Sub-genic deletion of exon 15 has been determined to be pathogenic (PMID: 17924555, 24689079). Therefore, deletions that fully encompass that region are also expected to be pathogenic. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 9-27 of the FANCA gene. It preserves the integrity of the reading frame.

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