ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg)

gnomAD frequency: 0.00009  dbSNP: rs138173652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665155 SCV001874848 uncertain significance not provided 2023-09-13 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; This variant is associated with the following publications: (PMID: Shinwari2023[Computational])
Labcorp Genetics (formerly Invitae), Labcorp RCV001665155 SCV002363650 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023211 SCV005662919 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-20 criteria provided, single submitter clinical testing

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