ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)

dbSNP: rs2146183586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730120 SCV001976980 likely pathogenic Pseudopseudohypoparathyroidism 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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