ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3067A>G (p.Lys1023Glu)

gnomAD frequency: 0.00006  dbSNP: rs758101910
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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 RCV001457322 SCV001661123 likely benign not provided 2024-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023169 SCV005657872 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-19 criteria provided, single submitter clinical testing

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