ClinVar Miner

Submissions for variant NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)

dbSNP: rs1567840381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) RCV000722110 SCV000853251 uncertain significance Weaver syndrome 2018-02-12 criteria provided, single submitter clinical testing
OMIM RCV001003508 SCV001162361 pathogenic Imagawa-Matsumoto syndrome 2020-02-21 no assertion criteria provided literature only

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