ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1005A>G (p.Gln335=)

gnomAD frequency: 0.00004  dbSNP: rs398124287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081703 SCV000113634 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055212 SCV002325181 likely benign Nephronophthisis 2023-11-13 criteria provided, single submitter clinical testing

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