ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89845199)_(89874785_?)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 RCV001381339 SCV001579669 pathogenic Fanconi anemia 2020-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has been observed in individual(s) with Fanconi anemia (PMID: 29098742). This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 6-20 of the FANCA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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