ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.141A>T (p.Arg47=)

gnomAD frequency: 0.00006  dbSNP: rs774866337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869170 SCV001010576 likely benign Nephronophthisis 2023-04-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507504 SCV002809108 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-06 criteria provided, single submitter clinical testing

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