ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3654G>A (p.Leu1218=)

dbSNP: rs752513968
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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 RCV002205106 SCV002369376 likely benign Progressive sclerosing poliodystrophy 2023-05-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326607 SCV004033410 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing POLG: PM2:Supporting, BP4, BP7

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