ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1719C>T (p.Ser573=)

gnomAD frequency: 0.00006  dbSNP: rs201985838
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 RCV000688761 SCV000816385 likely benign Hereditary spastic paraplegia 75 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692098 SCV005195257 uncertain significance not provided criteria provided, single submitter not provided

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