ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4630+78G>T

gnomAD frequency: 0.65846  dbSNP: rs2277509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554381 SCV001775612 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554598 SCV001775862 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655896 SCV001861670 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655896 SCV005291018 benign not provided criteria provided, single submitter not provided

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