ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)

gnomAD frequency: 0.00013  dbSNP: rs143495333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848429 SCV002104656 uncertain significance Hereditary spastic paraplegia 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074412 SCV002325530 likely benign Hereditary spastic paraplegia 62 2023-07-20 criteria provided, single submitter clinical testing

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