ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.726C>T (p.His242=)

gnomAD frequency: 0.00036  dbSNP: rs549905287
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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 RCV001510247 SCV001717233 benign Nephronophthisis 15 2023-11-28 criteria provided, single submitter clinical testing

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