ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.786T>C (p.Ile262=)

dbSNP: rs2113343560
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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 RCV002195744 SCV002489087 likely benign Hereditary hyperekplexia 2022-07-26 criteria provided, single submitter clinical testing

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