ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.234C>A (p.Thr78=)

dbSNP: rs140942886
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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 RCV001406829 SCV001608787 likely benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-10-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847054 SCV002106295 uncertain significance Hereditary spastic paraplegia 2019-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392640 SCV004134693 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MTRFR: BP4, BP7

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