ClinVar Miner

Submissions for variant NM_002693.3:c.2734+39_2734+40insAGGT

dbSNP: rs2152061162
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001789576 SCV002031680 benign Progressive sclerosing poliodystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789577 SCV002031681 benign Mitochondrial DNA depletion syndrome 4b 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789573 SCV002031682 benign Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789574 SCV002031683 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789575 SCV002031684 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 2021-10-25 criteria provided, single submitter clinical testing

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