ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.2550G>A (p.Gly850=)

gnomAD frequency: 0.00236  dbSNP: rs143192895
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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 RCV000886036 SCV001029519 benign not provided 2017-11-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886036 SCV004138966 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing POLRMT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000886036 SCV005309452 benign not provided criteria provided, single submitter not provided

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