ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.470_472del (p.Glu157del)

dbSNP: rs2146209517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002255782 SCV002526710 likely pathogenic Pseudohypoparathyroidism type I A 2024-08-22 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PS4_MOD,PM2,PM4_SUP

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