ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.927C>T (p.His309=)

gnomAD frequency: 0.00175  dbSNP: rs73332195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196888 SCV000252122 benign not specified 2014-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676623 SCV001108562 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676623 SCV005074446 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing POLG2: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic RCV000676623 SCV000802415 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing

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