ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)

gnomAD frequency: 0.00627  dbSNP: rs201222692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518781 SCV000612702 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000883401 SCV001026708 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496991 SCV002804477 likely benign Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2022-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883401 SCV005217874 likely benign not provided criteria provided, single submitter not provided

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