ClinVar Miner

Submissions for variant NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)

dbSNP: rs1555580263
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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 RCV000415478 SCV000484500 pathogenic Specific granule deficiency 1; Autosomal recessive severe congenital neutropenia 2016-01-01 no assertion criteria provided research
OMIM RCV000490559 SCV000579214 pathogenic Specific granule deficiency 2 2017-05-25 no assertion criteria provided literature only

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