ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.313-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314440 SCV004013791 uncertain significance Pseudohypoparathyroidism type 1C criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.98). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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