ClinVar Miner

Submissions for variant NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) (rs79544660)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762391 SCV000892703 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625227 SCV000744201 likely benign Retinitis pigmentosa 62 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174716 SCV000226072 benign not specified 2015-05-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267725 SCV000459333 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000174716 SCV000864339 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing BS1,BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.

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