ClinVar Miner

Submissions for variant NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) (rs147768808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242613 SCV000314818 likely benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625427 SCV000745337 likely benign Albinism, oculocutaneous, type VII 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732831 SCV000860823 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing
Invitae RCV000732831 SCV001110624 benign not provided 2018-12-27 criteria provided, single submitter clinical testing

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