ClinVar Miner

Submissions for variant NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)

gnomAD frequency: 0.00008  dbSNP: rs200292614
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817270 SCV002071587 uncertain significance not specified 2017-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847337 SCV002104662 uncertain significance Hereditary spastic paraplegia 2021-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434323 SCV004164614 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing ERLIN2: PM2:Supporting, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003588770 SCV004265924 likely benign Spastic paraplegia 2023-11-27 criteria provided, single submitter clinical testing

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