ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.858C>T (p.Thr286=)

gnomAD frequency: 0.00004  dbSNP: rs781137100
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430529 SCV001633271 likely benign Hereditary hyperekplexia 2022-09-07 criteria provided, single submitter clinical testing

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