ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2892C>T (p.Ala964=)

gnomAD frequency: 0.00009  dbSNP: rs762709199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176221 SCV000227838 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479926 SCV001684233 likely benign Nephronophthisis 2024-06-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294062 SCV002587762 uncertain significance Kidney disorder 2017-04-24 criteria provided, single submitter clinical testing

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