ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)

gnomAD frequency: 0.00001  dbSNP: rs560329867
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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) RCV000176491 SCV000228157 likely benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV000862808 SCV001003362 likely benign Nephronophthisis 2023-12-07 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003224190 SCV003920691 uncertain significance Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research

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