ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)

gnomAD frequency: 0.00211  dbSNP: rs145479679
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078488 SCV000110344 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078488 SCV000303397 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861944 SCV001002365 benign Nephronophthisis 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001558369 SCV001780302 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294013 SCV002587192 likely benign Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001558369 SCV005259974 likely benign not provided criteria provided, single submitter not provided

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