ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1036C>T (p.Leu346=)

gnomAD frequency: 0.00011  dbSNP: rs139339659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000933679 SCV001079385 likely benign not provided 2024-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533587 SCV004718564 likely benign GNAS-related disorder 2019-09-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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