ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)

gnomAD frequency: 0.00121  dbSNP: rs113364886
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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 RCV000248210 SCV000316285 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248210 SCV000339422 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001722363 SCV000619084 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Invitae RCV000542228 SCV000636164 likely benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294209 SCV002587750 uncertain significance Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing

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