ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11294T>C (p.Leu3765Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003361570 SCV004062967 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.11288T>C (p.L3763S) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a T to C substitution at nucleotide position 11288, causing the leucine (L) at amino acid position 3763 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029997 SCV005657574 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-17 criteria provided, single submitter clinical testing

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