ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.237C>G (p.Leu79=)

dbSNP: rs774537232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728944 SCV000856571 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768186 SCV004684658 likely benign Progressive sclerosing poliodystrophy 2023-10-27 criteria provided, single submitter clinical testing

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