ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.408A>G (p.Gln136=) (rs1800360)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241551 SCV000302519 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396417 SCV000481136 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000588429 SCV000560625 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569297 SCV000673294 benign Hereditary cancer-predisposing syndrome 2016-08-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588429 SCV000695424 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The FANCC c.408A>G variant affects a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a benign outcome for this variant, and 5/5 Alamut algorithms predict no significant change to splicing. This variant was found in 807/120880 control chromosomes (36 homozygotes) at a frequency of 0.006676, which is about 4 times the maximal expected frequency of a pathogenic FANCC allele (0.0017678), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.

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