ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) (rs1272546759)

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Total submissions: 1
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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) RCV000754872 SCV000882717 likely pathogenic Pseudopseudohypoparathyroidism 2019-02-08 criteria provided, single submitter clinical testing De novo variant and patient's phenotype is highly specific for Pseudopseudohypoparathyroidism.

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