ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) (rs200936836)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079050 SCV000110919 uncertain significance not provided 2013-09-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377261 SCV000393831 uncertain significance Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000377261 SCV000599897 likely benign Tay-Sachs disease 2017-08-31 criteria provided, single submitter clinical testing

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