ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.30C>T (p.Ala10=)

gnomAD frequency: 0.00001  dbSNP: rs1060504037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476036 SCV000556224 likely benign Progressive sclerosing poliodystrophy 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489101 SCV002797980 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 2021-10-01 criteria provided, single submitter clinical testing

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