ClinVar Miner

Submissions for variant NM_152756.5(RICTOR):c.1325A>G (p.His442Arg)

dbSNP: rs1329438711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV001270199 SCV001364330 likely pathogenic Premature ovarian failure 2020-03-02 criteria provided, single submitter research

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