ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5490T>G (p.Thr1830=)

gnomAD frequency: 0.00002  dbSNP: rs1262944393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022057 SCV002263111 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002022057 SCV005190268 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005025575 SCV005662306 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-10 criteria provided, single submitter clinical testing

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