ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.661G>A (p.Val221Ile)

gnomAD frequency: 0.03581  dbSNP: rs2229532
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544535 SCV000639585 benign Spondyloenchondrodysplasia with immune dysregulation 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001572880 SCV001942381 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572880 SCV005314658 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572880 SCV001797934 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702504 SCV001930567 benign not specified no assertion criteria provided clinical testing

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