ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2901C>T (p.Ile967=)

gnomAD frequency: 0.00003  dbSNP: rs764788201
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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) RCV000730851 SCV000858618 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768200 SCV004679680 likely benign Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000730851 SCV005186936 uncertain significance not provided criteria provided, single submitter not provided

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