ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.333C>A (p.Ile111=)

gnomAD frequency: 0.00001  dbSNP: rs769551356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848360 SCV002106299 uncertain significance Hereditary spastic paraplegia 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543393 SCV003512871 likely benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394280 SCV004134695 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MTRFR: BP4, BP7

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