ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.1647G>A (p.Ser549=)

gnomAD frequency: 0.00115  dbSNP: rs148183570
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952105 SCV001098579 benign Hereditary spastic paraplegia 75 2025-01-25 criteria provided, single submitter clinical testing

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