ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.250+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV004690524 SCV005093812 likely pathogenic Fanconi anemia complementation group C criteria provided, single submitter clinical testing Variant summary: FANCC c.250+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies.

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