ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11481C>T (p.Ser3827=)

gnomAD frequency: 0.00001  dbSNP: rs769466698
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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 RCV003828699 SCV004625250 likely benign not provided 2023-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005030292 SCV005657580 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-18 criteria provided, single submitter clinical testing

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