ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3274-8C>T

dbSNP: rs1184674847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001464831 SCV001668806 likely benign Progressive sclerosing poliodystrophy 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501320 SCV002805186 likely benign Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 2021-08-24 criteria provided, single submitter clinical testing

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