ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) (rs573269641)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506335 SCV000603956 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Counsyl RCV000670754 SCV000795649 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670754 SCV001461557 uncertain significance Tay-Sachs disease 2020-09-16 no assertion criteria provided clinical testing

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