ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2114del (p.Ser705fs)

dbSNP: rs1592118927
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Total submissions: 1
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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 RCV000995696 SCV001150010 pathogenic Coffin-Siris syndrome 6 2019-12-30 criteria provided, single submitter clinical testing

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