ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1799C>T (p.Ser600Leu)

gnomAD frequency: 0.00364  dbSNP: rs116643737
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873595 SCV001015613 benign Hereditary spastic paraplegia 75 2024-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717722 SCV005307832 benign not provided criteria provided, single submitter not provided

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