ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3250-2A>G

dbSNP: rs875989952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671022 SCV000795960 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-11-26 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001171546 SCV001334334 pathogenic Pseudo-Hurler polydystrophy 2020-05-03 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000211681 SCV000268696 pathogenic Mucolipidosis type II 2016-08-21 no assertion criteria provided clinical testing

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