ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) (rs7958709)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437039 SCV000511822 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneReviews RCV000032285 SCV000055928 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000344025 SCV000375435 likely benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032285 SCV000375436 likely benign I cell disease 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000437039 SCV000800956 benign not provided 2017-09-27 no assertion criteria provided clinical testing
PreventionGenetics RCV000250304 SCV000314274 benign not specified criteria provided, single submitter clinical testing

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