ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3658425)_(3658971_?)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 RCV001382813 SCV001581741 pathogenic Fanconi anemia 2016-10-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant is a gross deletion of the genomic region encompassing exon 2 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 2 of the SLX4 gene. This is expected to result in an absent or disrupted protein product.

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