ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.219C>T (p.Gly73=)

gnomAD frequency: 0.00052  dbSNP: rs61737691
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963396 SCV001110547 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963396 SCV004150721 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing GNAS: BP4

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