ClinVar Miner

Submissions for variant NM_001367479.1(DNAH14):c.5218A>G (p.Arg1740Gly)

gnomAD frequency: 0.00030  dbSNP: rs190061594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, Xiangya Hospital Central South University RCV002293261 SCV002503876 uncertain significance Neurodevelopmental disorder 2022-04-20 criteria provided, single submitter clinical testing

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