ClinVar Miner

Submissions for variant NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)

dbSNP: rs1950780024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Facility, Ludwig-Maximilians-Universität München RCV001199430 SCV001135147 pathogenic Shwachman-Diamond syndrome 1; Severe congenital neutropenia 2020-01-06 no assertion criteria provided research

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