ClinVar Miner

Submissions for variant NM_007175.8(ERLIN2):c.740-5C>G

dbSNP: rs191003311
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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 RCV000193298 SCV000247321 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862356 SCV001002852 benign Spastic paraplegia 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436988 SCV004164616 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ERLIN2: BP4
PreventionGenetics, part of Exact Sciences RCV003907684 SCV004725776 likely benign ERLIN2-related disorder 2019-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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