ClinVar Miner

Submissions for variant NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)

gnomAD frequency: 0.00001  dbSNP: rs771132137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886761 SCV002152716 likely benign Short-rib thoracic dysplasia 13 with or without polydactyly 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004611955 SCV005103068 likely benign Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005038443 SCV005672249 uncertain significance Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 2024-02-05 criteria provided, single submitter clinical testing

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