ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)

dbSNP: rs948490589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625916 SCV000746502 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2020-05-03 criteria provided, single submitter clinical testing

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