ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu)

dbSNP: rs121918412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268225 SCV001446998 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000017443 SCV000037715 pathogenic Hyperekplexia 1 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000017443 SCV000054512 pathologic Hyperekplexia 1 2012-10-04 no assertion criteria provided curation Converted during submission to Pathogenic.

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