ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1330-19_1330-10del

dbSNP: rs1389222142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002547605 SCV003487238 likely benign Fanconi anemia 2024-04-15 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355348 SCV001550214 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The FANCC c.1330-19_1330-10del variant was not identified in the literature nor was it identified in the ClinVar and LOVD 3.0 databases. The variant was identified in dbSNP (rs1389222142). The variant was identified in control databases in 1 of 249,064 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 1 of 3440 chromosomes (freq: 0.00003); it was not observed in the African, Ashkenazi Jewish, East Asian, Finnish, European, Other, and South Asian populations. The variant is a 10 base pair intronic deletion that occurs outside of the consensus splice sequence and 3 out of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% 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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