ClinVar Miner

Submissions for variant NM_000263.3(NAGLU):c.-200G>C

gnomAD frequency: 0.01366  dbSNP: rs114904267
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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 RCV000356572 SCV000402893 likely benign Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001574709 SCV001801575 likely benign not provided 2019-06-29 criteria provided, single submitter clinical testing

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