ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89752128)_(89808377_?)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 RCV001032776 SCV001196083 pathogenic Fanconi anemia 2019-04-26 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 6-31 of the FANCA gene. It preserves the integrity of the reading frame. A similar deletion of exons 6-31 in FANCA has been observed to segregate with Fanconi anemia in a family (PMID: 15059067). For these reasons, this variant has been classified as Pathogenic.

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