ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1827+7A>G (rs532747)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081309 SCV000113227 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509568 SCV000607359 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000316339 SCV000373016 benign Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000509568 SCV000801329 benign not provided 2015-10-22 no assertion criteria provided clinical testing
PreventionGenetics RCV000081309 SCV000311169 benign not specified criteria provided, single submitter clinical testing

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