ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.*301C>T (rs41291468)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320279 SCV000359963 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356361 SCV000359964 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261655 SCV000359965 likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316885 SCV000359966 likely benign Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing

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