ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.276A>G (p.Glu92=)

gnomAD frequency: 0.00020  dbSNP: rs139168020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873639 SCV001015670 benign Hereditary spastic paraplegia 62 2024-12-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847092 SCV002104653 likely benign Hereditary spastic paraplegia 2021-02-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705841 SCV005227147 likely benign not provided criteria provided, single submitter not provided

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