ClinVar Miner

Submissions for variant NM_002067.5(GNA11):c.885C>T (p.Phe295=)

gnomAD frequency: 0.00065  dbSNP: rs147368872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904817 SCV001049363 likely benign not provided 2024-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502684 SCV002809564 benign Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 2022-02-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000904817 SCV005207702 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003958206 SCV004772110 likely benign GNA11-related disorder 2019-07-25 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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