ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1114-17T>C

gnomAD frequency: 0.01149  dbSNP: rs112075452
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002060832 SCV002404276 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675293 SCV000800955 benign not provided 2017-05-17 no assertion criteria provided clinical testing

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