ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4080C>T (p.His1360=)

gnomAD frequency: 0.00011  dbSNP: rs371821589
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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 RCV002101047 SCV002392163 likely benign not provided 2024-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032162 SCV005657912 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2023-12-21 criteria provided, single submitter clinical testing

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