ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.*200T>C

dbSNP: rs886051461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275877 SCV000393826 uncertain significance Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing

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