ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2311-6A>G

dbSNP: rs769918347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245714 SCV000316264 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001480369 SCV001684685 likely benign Nephronophthisis 2024-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503950 SCV002795190 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-02-02 criteria provided, single submitter clinical testing

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