ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89782853)_(89784970_?)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 RCV000535898 SCV000626139 pathogenic Fanconi anemia 2017-05-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 15-17 of the FANCA gene. It preserves the integrity of the reading frame. This deletion, and similar in-frame deletions within exons 15-17, have been reported in individuals affected with Fanconi anemia (PMID: 10521298, 23613520, 17924555, 9711872). The in-frame deletion of exon 15 has been reported as a founder variant in the Tunisian population (PMID: 24689079). For these reasons, this variant has been classified as Pathogenic.

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