ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)

dbSNP: rs1727604042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254450 SCV002525624 uncertain significance Capillary infantile hemangioma 2022-01-28 criteria provided, single submitter clinical testing The c.13979C>G (p.Ala4460Gly) variant has not been observed in large population studies and algorithms have conflicting predictions about the possible impact of this change (CADD 25.1).

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