ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) (rs748190164)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000203235 SCV000257501 pathogenic Tay-Sachs disease 2011-04-07 criteria provided, single submitter research This variant was found to be pathogenic by MutationTaster, Polyphen2 and SIFT.

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