ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.129A>G (p.Glu43=)

gnomAD frequency: 0.00003  dbSNP: rs762888111
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156643 SCV002475700 likely benign Nephronophthisis 15 2023-06-25 criteria provided, single submitter clinical testing

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