ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1533+13G>A

gnomAD frequency: 0.00008  dbSNP: rs200515307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001692373 SCV001910672 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070223 SCV002351138 likely benign Fanconi anemia 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476624 SCV002795361 likely benign Fanconi anemia complementation group C 2021-07-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354456 SCV001549075 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The FANCC c.1533+13G>A variant was not identified in the literature nor was it identified in the ClinVar or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs200515307) as well as in control databases in 7 of 276694 chromosomes at a frequency of 0.00003 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 24028 chromosomes (freq: 0.00004), European in 6 of 126238 chromosomes (freq: 0.00005), while the variant was not observed in the Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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