ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.309G>A (p.Gln103=)

gnomAD frequency: 0.00003  dbSNP: rs573747271
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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 RCV000865541 SCV001006529 benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2024-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847059 SCV002106298 likely benign Hereditary spastic paraplegia 2021-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392642 SCV004134694 benign not provided 2023-03-01 criteria provided, single submitter clinical testing MTRFR: BP4, BP7, BS1, BS2

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