ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr)

gnomAD frequency: 0.00013  dbSNP: rs181583071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202963 SCV000258056 uncertain significance not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000766607 SCV000616828 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21555342, 27065468)
Labcorp Genetics (formerly Invitae), Labcorp RCV000766607 SCV001050713 benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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