ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3049A>G (p.Lys1017Glu)

gnomAD frequency: 0.00029  dbSNP: rs200995117
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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 RCV002121869 SCV002444808 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032175 SCV005657870 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-30 criteria provided, single submitter clinical testing

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