ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.1173G>A (p.Gln391=)

dbSNP: rs929635504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592783 SCV000681199 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001330675 SCV001522427 uncertain significance FRAXE 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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