ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.971-5C>T

gnomAD frequency: 0.00015  dbSNP: rs200576970
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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 RCV001495724 SCV001700412 likely benign Hereditary spastic paraplegia 75 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539288 SCV003590117 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.971-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 7 (coding exon 5) of the MAG gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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