ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5906C>T (p.Thr1969Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003149343 SCV003837110 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005029923 SCV005662322 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-12 criteria provided, single submitter clinical testing

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