ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.768C>T (p.Pro256=)

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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 RCV002972009 SCV003286218 likely benign Progressive sclerosing poliodystrophy 2023-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403989 SCV004137643 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing POLG: PM2:Supporting, BP4, BP7

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