ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)

gnomAD frequency: 0.00001  dbSNP: rs780197880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516842 SCV000612694 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650516 SCV000772362 likely benign Congenital myopathy with internal nuclei and atypical cores 2024-08-12 criteria provided, single submitter clinical testing

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