ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3153A>G (p.Gln1051=)

gnomAD frequency: 0.00002  dbSNP: rs372689449
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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 RCV000943293 SCV001089238 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029539 SCV005657876 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-07 criteria provided, single submitter clinical testing

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