ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) (rs980193170)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592298 SCV000706171 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV001004789 SCV001164275 likely pathogenic Perrault syndrome 3 2018-05-07 criteria provided, single submitter research Recessive, compound heterozygous with NM_00601.2:[c.233G>C]; congenital, profound HL; auditory neropathy

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