ClinVar Miner

Submissions for variant NM_007175.8(ERLIN2):c.123G>A (p.Leu41=)

gnomAD frequency: 0.00103  dbSNP: rs112575270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502010 SCV000594587 uncertain significance not specified 2015-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555285 SCV000629436 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing

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