ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2782G>A (p.Gly928Ser)

gnomAD frequency: 0.00001  dbSNP: rs759944038
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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 RCV001372626 SCV001569301 uncertain significance Progressive sclerosing poliodystrophy 2021-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003399183 SCV004137628 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing POLG: PM1, PM2:Supporting

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