ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6826C>T (p.Pro2276Ser)

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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 RCV002835528 SCV003613509 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.6826C>T (p.P2276S) alteration is located in exon 5 (coding exon 5) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 6826, causing the proline (P) at amino acid position 2276 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 RCV005036560 SCV005662361 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-07 criteria provided, single submitter clinical testing

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