ClinVar Miner

Submissions for variant NC_000014.8:g.(?_45628293)_(45628489_?)dup

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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 RCV000707921 SCV000837031 likely pathogenic Fanconi anemia 2019-03-13 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 9 of the FANCM gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. A similar copy number gain of exon 9 has not been reported in the literature in individuals with FANCM-related conditions. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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