ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.270C>T (p.Leu90=)

gnomAD frequency: 0.00032  dbSNP: rs143617732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652403 SCV000774273 likely benign Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292575 SCV002585955 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing JAGN1: BP4, BP7

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