ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.132G>A (p.Thr44=)

gnomAD frequency: 0.00014  dbSNP: rs150582430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961610 SCV001108660 likely benign Spondyloenchondrodysplasia with immune dysregulation 2024-01-15 criteria provided, single submitter clinical testing

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