ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) (rs119456962)

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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 RCV000174180 SCV000225438 pathogenic not provided 2014-09-19 criteria provided, single submitter clinical testing
OMIM RCV000002755 SCV000022913 pathogenic Meckel syndrome type 7 2008-04-01 no assertion criteria provided literature only

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