ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89824965)_(89825133_?)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 RCV003119382 SCV003790705 pathogenic Fanconi anemia 2022-08-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 30 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 30792206, 32487094). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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