ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.120A>G (p.Pro40=)

gnomAD frequency: 0.00011  dbSNP: rs144873205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421566 SCV001624093 likely benign Hyperekplexia 2 2024-06-15 criteria provided, single submitter clinical testing

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