ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1723A>C (p.Lys575Gln)

dbSNP: rs1379482879
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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 RCV000531741 SCV000630107 uncertain significance Progressive sclerosing poliodystrophy 2021-08-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728094 SCV000855627 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing

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