ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) (rs121907952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004096 SCV000485717 likely pathogenic Tay-Sachs disease 2016-02-10 criteria provided, single submitter clinical testing
OMIM RCV000004096 SCV000024262 pathogenic Tay-Sachs disease 2008-08-01 no assertion criteria provided literature only

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