ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.831T>C (p.Thr277=)

gnomAD frequency: 0.97830  dbSNP: rs12507409
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515474 SCV001723557 benign Hyperekplexia 2 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001515474 SCV001933845 benign Hyperekplexia 2 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716727 SCV005303831 benign not provided criteria provided, single submitter not provided

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