ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1351-14A>G (rs4747203)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080034 SCV000111928 benign not specified 2013-08-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080034 SCV000309195 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340431 SCV000364071 benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400368 SCV000364072 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291365 SCV000364073 benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343946 SCV000364074 benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406452 SCV000483197 likely benign CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676139 SCV000801885 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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