ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.3483C>T (p.Asp1161=)

gnomAD frequency: 0.00005  dbSNP: rs376400505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000909684 SCV001054503 likely benign Autoimmune interstitial lung disease-arthritis syndrome 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923127 SCV004754836 likely benign COPA-related condition 2019-07-02 criteria provided, single submitter 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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