ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.54G>A (p.Pro18=)

gnomAD frequency: 0.00031  dbSNP: rs188310109
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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 RCV000863977 SCV001004713 likely benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2024-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847048 SCV002106304 uncertain significance Hereditary spastic paraplegia 2021-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311903 SCV004010204 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MTRFR: BP4, BP7

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