ClinVar Miner

Submissions for variant NM_001386135.1(AFF3):c.2840G>A (p.Arg947Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV005052788 SCV005686347 likely pathogenic KINSSHIP syndrome 2025-01-29 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Likely pathogenic (II):PP2;PM2;PS2

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