ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.516T>A (p.Pro172=)

dbSNP: rs887425978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919730 SCV001065084 likely benign Spondyloenchondrodysplasia with immune dysregulation 2023-09-25 criteria provided, single submitter clinical testing

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