ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.1741C>T (p.Leu581=)

gnomAD frequency: 0.02550  dbSNP: rs79304843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530147 SCV000656410 benign Autoimmune interstitial lung disease-arthritis syndrome 2024-01-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796123 SCV002036176 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796123 SCV002037813 benign not specified no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824828 SCV002074592 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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