ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys)

dbSNP: rs2151537413
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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 RCV002174700 SCV002341934 likely benign Congenital myopathy with internal nuclei and atypical cores 2021-06-13 criteria provided, single submitter clinical testing

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