ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.7582G>A (p.Gly2528Arg)

gnomAD frequency: 0.00006  dbSNP: rs199986451
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491405 SCV001695998 likely benign not provided 2024-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023174 SCV005659947 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-19 criteria provided, single submitter clinical testing

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