ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)

gnomAD frequency: 0.00212  dbSNP: rs148595483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116606 SCV000150570 uncertain significance not provided 2014-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082148 SCV000652764 benign Congenital myopathy with internal nuclei and atypical cores 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000116606 SCV002004400 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing

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