ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.212+3_212+6del

dbSNP: rs2089974938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001260991 SCV001438370 likely pathogenic Pseudohypoparathyroidism 2020-09-28 criteria provided, single submitter clinical testing

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