ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) (rs370266293)

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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 RCV000202576 SCV000257503 pathogenic Tay-Sachs disease 2011-10-02 criteria provided, single submitter research This variant found to be pathogenic by online software, including MutationTaster, Polyphen2 and SIFT.

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