ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys)

gnomAD frequency: 0.00431  dbSNP: rs61998220
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557026 SCV000652760 benign Congenital myopathy with internal nuclei and atypical cores 2025-01-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662584 SCV001880119 likely benign not specified 2020-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705667 SCV005216357 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004745476 SCV005345517 benign CCDC78-related disorder 2024-03-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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