ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.636G>A (p.Leu212=)

gnomAD frequency: 0.00006  dbSNP: rs377524694
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001437469 SCV001640323 likely benign Hereditary hyperekplexia 2024-10-26 criteria provided, single submitter clinical testing

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