ClinVar Miner

Submissions for variant NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)

gnomAD frequency: 0.00443  dbSNP: rs143417446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513784 SCV000610152 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000513784 SCV000977918 benign not provided 2019-06-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25058219)
Labcorp Genetics (formerly Invitae), Labcorp RCV000513784 SCV001034032 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513784 SCV004149908 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing MGME1: BP4, BS1
GenomeConnect, ClinGen RCV000709839 SCV000840169 not provided Mitochondrial DNA depletion syndrome 11 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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