ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.246G>A (p.Val82=)

dbSNP: rs1593287730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924460 SCV001069974 likely benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-08-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847112 SCV002106297 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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