ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.*1632del

gnomAD frequency: 0.00334  dbSNP: rs370646056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380905 SCV000375327 uncertain significance Mucolipidosis type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286422 SCV000375328 uncertain significance Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing

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