ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.124dup (p.Arg42fs)

dbSNP: rs2145916852
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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 RCV001814752 SCV002061555 likely pathogenic Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 2021-09-07 criteria provided, single submitter clinical testing PVS1, PM2

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