ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.828-17G>A (rs78735768)

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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 RCV000253879 SCV000308527 benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625342 SCV000745009 benign Neuronal ceroid lipofuscinosis 10 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625342 SCV000745774 benign Neuronal ceroid lipofuscinosis 10 2016-09-21 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675951 SCV000801680 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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