ClinVar Miner

Submissions for variant NM_001136.5(AGER):c.822+49G>T

gnomAD frequency: 0.12403  dbSNP: rs184003
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Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003993688 SCV004041891 uncertain significance COPD, severe early onset 2023-08-10 no assertion criteria provided research

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