ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.845T>G (p.Leu282Arg)

dbSNP: rs2146289554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272602 SCV002556445 likely pathogenic Pseudohypoparathyroidism type I A 2021-07-08 criteria provided, single submitter clinical testing

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