ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.588G>A (p.Pro196=)

gnomAD frequency: 0.00173  dbSNP: rs141751043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945768 SCV001091820 benign Joubert syndrome 25 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001569501 SCV001793592 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569501 SCV004128037 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing CEP104: BP4, BP7

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