ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.462G>A (p.Glu154=)

gnomAD frequency: 0.35409  dbSNP: rs3746248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518641 SCV001727375 benign Hereditary spastic paraplegia 75 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001638116 SCV001851602 benign not provided 2019-10-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518641 SCV002014083 benign Hereditary spastic paraplegia 75 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638116 SCV005314911 benign not provided criteria provided, single submitter not provided

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