ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) (rs201090359)

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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 RCV000593602 SCV000709052 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV001080629 SCV001004403 likely benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing

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