ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys)

dbSNP: rs1727568738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329343 SCV001520761 uncertain significance Van Maldergem syndrome 2 2020-04-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005023052 SCV005662897 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-31 criteria provided, single submitter clinical testing

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