ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met)

gnomAD frequency: 0.00052  dbSNP: rs140761899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695091 SCV000823570 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945717 SCV004757905 likely benign CCDC78-related disorder 2021-08-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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