ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) (rs1800430)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079048 SCV000110917 benign not specified 2018-05-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224180 SCV000281413 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079048 SCV000304637 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399795 SCV000393834 likely benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000399795 SCV000629533 benign Tay-Sachs disease 2017-06-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224180 SCV000885565 benign not provided 2017-09-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224180 SCV000801156 benign not provided 2017-05-16 no assertion criteria provided clinical testing

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