ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.18del (p.Thr7fs)

dbSNP: rs1584439050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995634 SCV001149917 pathogenic Shwachman-Diamond syndrome 1 2019-06-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473537 SCV004202340 pathogenic Aplastic anemia 2023-11-21 criteria provided, single submitter clinical testing

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