ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.6243T>C (p.Asp2081=)

gnomAD frequency: 0.00190  dbSNP: rs375825344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088466 SCV002390287 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913637 SCV004738800 likely benign SPEG-related disorder 2019-06-03 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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