ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.3267+5G>A

gnomAD frequency: 0.00003  dbSNP: rs374064624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498584 SCV000589482 likely benign not provided 2022-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001095676 SCV001251446 uncertain significance FRAXE 2019-10-29 criteria provided, single submitter clinical testing

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