ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1329+181_1329+183del

dbSNP: rs587778328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665686 SCV000789845 likely benign Fanconi anemia complementation group C 2017-02-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003407513 SCV004107068 uncertain significance FANCC-related condition 2022-11-21 criteria provided, single submitter clinical testing The FANCC c.1393_1395delCCT variant is predicted to result in an in-frame deletion (p.Pro465del). In the canonical transcript (NM_000136.3) this variant is intronic (c.1329+181_1329+183delCCT). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-97873561-CAGG-C) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134307/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120981 SCV000085149 not provided not specified 2013-09-19 no assertion provided reference population

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