ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val)

gnomAD frequency: 0.00001  dbSNP: rs562625664
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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 RCV000878237 SCV001021102 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938389 SCV004747171 likely benign CCDC78-related disorder 2019-06-24 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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