ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.474C>T (p.Pro158=) (rs151230930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000260872 SCV000338212 uncertain significance not provided 2015-12-30 criteria provided, single submitter clinical testing
Invitae RCV000260872 SCV001057352 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272750 SCV001455009 likely benign Achromatopsia 2020-06-04 no assertion criteria provided clinical testing

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