ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg)

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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 RCV004977623 SCV005583474 uncertain significance Inborn genetic diseases 2024-09-09 criteria provided, single submitter clinical testing The c.2248G>A (p.G750R) 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 2248, causing the glycine (G) at amino acid position 750 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005051508 SCV005683003 uncertain significance Fanconi anemia complementation group B 2024-05-14 criteria provided, single submitter clinical testing

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