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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518781 SCV000612702 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000883401 SCV001026708 benign not provided 2024-01-31 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

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