ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)

gnomAD frequency: 0.00033  dbSNP: rs111727307
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247835 SCV000316273 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000247835 SCV000339423 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001722361 SCV000619083 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Invitae RCV000524884 SCV000636160 likely benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294206 SCV002587755 uncertain significance Kidney disorder 2017-04-17 criteria provided, single submitter clinical testing

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