ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.*472GA[2]

dbSNP: rs370783985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333328 SCV000359983 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369355 SCV000359984 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274766 SCV000359985 likely benign Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329810 SCV000359986 likely benign Progressive external ophthalmoplegia with mitochondrial DNA deletions 2016-06-14 criteria provided, single submitter clinical testing

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