ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)

gnomAD frequency: 0.00287  dbSNP: rs61737660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145452 SCV000192536 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949797 SCV001096066 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505126 SCV002808250 likely benign Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2022-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000949797 SCV005291050 benign not provided criteria provided, single submitter not provided

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