ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.180+12G>T

gnomAD frequency: 0.19608  dbSNP: rs12448311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253971 SCV000305968 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610600 SCV001840679 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057418 SCV002437203 benign Congenital myopathy with internal nuclei and atypical cores 2023-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610600 SCV005294362 benign not provided criteria provided, single submitter not provided

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