ClinVar Miner

Submissions for variant NC_000016.10:g.(?_3606464)_(3608974_?)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 RCV001031858 SCV001195165 pathogenic Fanconi anemia 2019-04-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-3 of the SLX4 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the SLX4 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant has not been reported in the literature in individuals with SLX4-related conditions.

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