ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.319C>T (p.Leu107=)

dbSNP: rs1440493081
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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 RCV001410123 SCV001612166 likely benign Progressive sclerosing poliodystrophy 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001692380 SCV001910015 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing

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