ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2957T>A (p.Val986Asp)

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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 RCV003117866 SCV003786108 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036659 SCV005657866 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-16 criteria provided, single submitter clinical testing

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