ClinVar Miner

Submissions for variant NM_002067.5(GNA11):c.605+10G>A

gnomAD frequency: 0.00006  dbSNP: rs535105766
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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 RCV002029797 SCV002110469 likely benign not provided 2024-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478083 SCV002777094 likely benign Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 2024-04-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002029797 SCV005192484 uncertain significance not provided criteria provided, single submitter not provided

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