ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.271T>C (p.Tyr91His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769795 SCV005378889 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005038826 SCV005664896 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-28 criteria provided, single submitter clinical testing

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