ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.460-1G>A

dbSNP: rs764343937
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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 RCV000416480 SCV000494207 likely pathogenic Tay-Sachs disease 2013-09-30 no assertion criteria provided research Variant was found to be pathogenic by online software BDGP and ASST

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