ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.898_905del (p.Phe300fs)

dbSNP: rs1057519463
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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 RCV000416413 SCV000494219 pathogenic Tay-Sachs disease 2012-09-07 no assertion criteria provided research

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