ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu)

dbSNP: rs774612831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329342 SCV001520760 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2019-09-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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