ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg)

gnomAD frequency: 0.00096  dbSNP: rs59763167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224518 SCV000281007 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520624 SCV001729771 benign Nephronophthisis 15 2024-01-16 criteria provided, single submitter clinical testing

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