ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)

gnomAD frequency: 0.00120  dbSNP: rs112300370
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242974 SCV000316269 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242974 SCV000339424 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000536392 SCV000636158 benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722359 SCV000721106 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294204 SCV002587757 uncertain significance Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500933 SCV002805792 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-05 criteria provided, single submitter clinical testing

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