ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.89-18_89-15del

dbSNP: rs768357480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360164 SCV000407367 uncertain significance Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800656 SCV002045475 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800656 SCV002395194 likely benign Mucopolysaccharidosis, MPS-III-A 2024-01-04 criteria provided, single submitter clinical testing

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