ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.212+1_212+3del

dbSNP: rs2146006354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814684 SCV002061435 likely pathogenic Pseudopseudohypoparathyroidism 2021-08-09 criteria provided, single submitter clinical testing PVS1, PM2

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