ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.918G>C (p.Leu306=)

gnomAD frequency: 0.00049  dbSNP: rs139766874
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876910 SCV001019549 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001683684 SCV001899654 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683684 SCV005216356 likely benign not provided criteria provided, single submitter not provided

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