ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4037A>G (p.Asp1346Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595139 SCV003492432 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028246 SCV005657910 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2023-12-24 criteria provided, single submitter clinical testing

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