ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003393554 SCV004130255 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing CCDC88C: PM2, BP4
3billion RCV004720394 SCV005328902 likely benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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