ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89803249)_(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 RCV001031473 SCV001194779 pathogenic Fanconi anemia 2021-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the FANCA gene that includes exon(s) 6-7 has been determined to be clinically significant (PMID: 15059067, 16015582, 24584348, 26841305, 29098742, 29797310). Therefore, deletions that encompass that region are likely to be disease-causing. A similar copy number variant has been observed in individuals with Fanconi anemia (PMID: 16015582, 26841305). This variant is a gross deletion of the genomic region encompassing exon(s) 6-8 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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