ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89857801)_(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 RCV001941935 SCV002229438 pathogenic Fanconi anemia 2021-05-13 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) 9-14 has been determined to be clinically significant (Invitae). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has been observed in individual(s) with clinical features of autosomal recessive FANCA-related conditions (PMID: 10521298, 21273304). This variant is a gross deletion of the genomic region encompassing exon(s) 6-14 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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