ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) (rs1048719)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250898 SCV000304058 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000250898 SCV000336771 benign not specified 2015-11-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384587 SCV000455362 likely benign Tay-Sachs disease, variant AB 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675620 SCV000801320 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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