ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)

gnomAD frequency: 0.00121  dbSNP: rs112386774
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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 RCV000249676 SCV000316271 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249676 SCV000339420 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000549033 SCV000636159 benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722360 SCV000721107 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294205 SCV002587756 likely benign Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494774 SCV002801739 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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