ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.897G>A (p.Arg299=)

dbSNP: rs759083348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018585 SCV001179840 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-15 criteria provided, single submitter clinical testing The c.897G>A variant (also known as p.R299R) is located in exon 9 of the FANCC gene. This variant results from a G to A substitution at nucleotide position 897. This nucleotide substitution does not change the arginine at codon 299. This change occurs in the first base pair of coding exon 9. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the native splice acceptor site; however, direct experimental evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827195 SCV002081203 uncertain significance Fanconi anemia 2020-02-21 no assertion criteria provided clinical testing

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