ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) (rs558637226)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248754 SCV000316262 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726409 SCV000344450 uncertain significance not provided 2016-08-02 criteria provided, single submitter clinical testing
Invitae RCV001079754 SCV001009497 likely benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing

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