ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=)

gnomAD frequency: 0.00006  dbSNP: rs530313895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489718 SCV001694270 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-11-19 criteria provided, single submitter clinical testing

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