ClinVar Miner

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

dbSNP: rs866796047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595262 SCV000702946 uncertain significance not provided 2016-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087856 SCV001016902 likely benign Nephronophthisis 2021-12-20 criteria provided, single submitter clinical testing

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