ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met)

dbSNP: rs1215405311
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714817 SCV000845553 uncertain significance Van Maldergem syndrome 2 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714818 SCV000845554 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 1 2018-08-07 criteria provided, single submitter clinical testing

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