ClinVar Miner

Submissions for variant NM_002067.5(GNA11):c.987G>A (p.Thr329=)

gnomAD frequency: 0.00001  dbSNP: rs375856122
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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 RCV001494529 SCV001699187 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820196 SCV002064980 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501697 SCV002807542 likely benign Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 2021-09-13 criteria provided, single submitter clinical testing

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