ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) (rs1599193093)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV001004790 SCV001164276 likely pathogenic Perrault syndrome 3 2018-05-07 criteria provided, single submitter research Recessive, compound heterozygous with NM_00601.2:[c.173T>G]; congenital, profound HL; auditory neropathy

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