ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4209G>A (p.Glu1403=)

gnomAD frequency: 0.00001  dbSNP: rs1270648884
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002174350 SCV002477630 likely benign Nephronophthisis 2022-03-17 criteria provided, single submitter clinical testing

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