ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.21G>C (p.Pro7=)

gnomAD frequency: 0.00299  dbSNP: rs138937423
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524645 SCV000655408 benign Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001672863 SCV001891236 benign not provided 2021-05-05 criteria provided, single submitter clinical testing

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