ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser)

gnomAD frequency: 0.00010  dbSNP: rs138487235
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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 RCV000959750 SCV001106674 benign Nephronophthisis 15 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978346 SCV004792553 likely benign CEP164-related disorder 2022-10-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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