ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.385C>T (p.Leu129Phe)

gnomAD frequency: 0.00045  dbSNP: rs201202318
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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 RCV002152957 SCV002418317 likely benign Nephronophthisis 9 2023-08-10 criteria provided, single submitter clinical testing

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