ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1302-10C>T

gnomAD frequency: 0.00001  dbSNP: rs1233846202
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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 RCV001496902 SCV001701616 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-07-14 criteria provided, single submitter clinical testing

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