ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.285G>A (p.Leu95=)

gnomAD frequency: 0.00004  dbSNP: rs148764840
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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 RCV001514768 SCV001722688 benign Spastic paraplegia 2022-10-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847290 SCV002104736 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908827 SCV004720697 likely benign GJC2-related disorder 2022-01-03 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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