ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1596C>T (p.Pro532=)

gnomAD frequency: 0.00003  dbSNP: rs199856571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516203 SCV000614706 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000516203 SCV000729509 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000864648 SCV001005477 likely benign Progressive sclerosing poliodystrophy 2024-01-19 criteria provided, single submitter clinical testing

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