ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln)

gnomAD frequency: 0.00154  dbSNP: rs142170929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650527 SCV000772373 likely benign Congenital myopathy with internal nuclei and atypical cores 2023-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705757 SCV005216354 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003945651 SCV004764815 benign CCDC78-related disorder 2023-05-22 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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