ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1409+10G>A

gnomAD frequency: 0.00041  dbSNP: rs199783386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001336219 SCV001717539 benign Nephronophthisis 15 2022-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001336219 SCV002800239 likely benign Nephronophthisis 15 2022-01-06 criteria provided, single submitter clinical testing

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