ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) (rs3751249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000391201 SCV000375416 likely benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309604 SCV000375417 likely benign I cell disease 2016-06-14 criteria provided, single submitter clinical testing

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