ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.1667+9A>G

gnomAD frequency: 0.00018  dbSNP: rs375429812
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653108 SCV000774983 likely benign Autoimmune interstitial lung disease-arthritis syndrome 2024-01-06 criteria provided, single submitter clinical testing

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