ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.1674G>C (p.Ala558=)

gnomAD frequency: 0.00293  dbSNP: rs61746452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970755 SCV001118353 benign not provided 2017-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970755 SCV004138974 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing POLRMT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000970755 SCV005311639 benign not provided criteria provided, single submitter not provided

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