ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) (rs866796047)

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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 RCV000595262 SCV000702946 uncertain significance not provided 2016-11-05 criteria provided, single submitter clinical testing
Invitae RCV001087856 SCV001016902 likely benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing

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