ClinVar Miner

Submissions for variant NM_001386135.1(AFF3):c.2509G>A (p.Gly837Arg)

gnomAD frequency: 0.00001  dbSNP: rs2546051419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002812547 SCV003597274 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.2584G>A (p.G862R) alteration is located in exon 15 (coding exon 14) of the AFF3 gene. This alteration results from a G to A substitution at nucleotide position 2584, causing the glycine (G) at amino acid position 862 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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