ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3651G>A (p.Ala1217=)

gnomAD frequency: 0.00003  dbSNP: rs775048930
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098961 SCV002431639 likely benign Progressive sclerosing poliodystrophy 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883780 SCV004699984 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing POLG: BP4, BP7

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