ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)

dbSNP: rs1574689480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985227 SCV001133259 uncertain significance Acrocapitofemoral dysplasia 2019-09-26 no assertion criteria provided clinical testing

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