ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys)

gnomAD frequency: 0.00013  dbSNP: rs559942514
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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 RCV000872428 SCV001014237 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-07-17 criteria provided, single submitter clinical testing
GeneDx RCV001709692 SCV001938162 benign not provided 2021-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001709692 SCV005437083 benign not provided 2024-11-01 criteria provided, single submitter clinical testing CCDC78: BS1, BS2

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