ClinVar Miner

Submissions for variant NM_002067.5(GNA11):c.915G>A (p.Ala305=)

gnomAD frequency: 0.00004  dbSNP: rs750757769
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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 RCV001511325 SCV001718548 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501760 SCV002808009 likely benign Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 2021-11-10 criteria provided, single submitter clinical testing

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