ClinVar Miner

Submissions for variant NM_001098426.2(SMARCD2):c.401+2T>C

dbSNP: rs1057518733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hauner Childrens Hospital, Department of Pediatrics, Dr. von Hauner Children's Hospital; Ludwig Maximilians University RCV000415497 SCV000484501 pathogenic Specific granule deficiency 1; Autosomal recessive severe congenital neutropenia 2013-01-01 no assertion criteria provided research
OMIM RCV000490561 SCV000579215 pathogenic Specific granule deficiency 2 2017-05-25 no assertion criteria provided literature only

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