ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2365G>A (p.Glu789Lys)

gnomAD frequency: 0.00001  dbSNP: rs1340712652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238662 SCV002011231 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540720 SCV003666802 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.2365G>A (p.E789K) alteration is located in exon 10 (coding exon 8) of the FANCB gene. This alteration results from a G to A substitution at nucleotide position 2365, causing the glutamic acid (E) at amino acid position 789 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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