ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.713G>C (p.Gly238Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294615 SCV002587194 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025770 SCV005656473 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-01-22 criteria provided, single submitter clinical testing

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