ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1586-1G>A

dbSNP: rs2055524549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332165 SCV001524391 likely pathogenic Progressive sclerosing poliodystrophy 2019-04-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001780251 SCV002024707 likely pathogenic not provided 2021-07-17 criteria provided, single submitter clinical testing

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