ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile)

gnomAD frequency: 0.00010  dbSNP: rs369024765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797507 SCV002039082 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001797507 SCV002188757 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023259 SCV005657621 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-31 criteria provided, single submitter clinical testing

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