ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.*419del

dbSNP: rs768136710
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389377 SCV000375367 uncertain significance Mucolipidosis type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295619 SCV000375368 uncertain significance Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing

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