ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2787C>T (p.Leu929=)

dbSNP: rs1730806684
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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 RCV002153820 SCV002465960 likely benign not provided 2024-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032181 SCV005657856 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-07 criteria provided, single submitter clinical testing

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