ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.18C>T (p.Asn6=)

gnomAD frequency: 0.00010  dbSNP: rs543390941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918628 SCV001063944 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000918628 SCV005330755 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing GNAS: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533531 SCV004739392 likely benign GNAS-related disorder 2020-11-03 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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