ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12141A>G (p.Thr4047=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005027102 SCV005657601 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005063281 SCV005722624 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing

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