ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)

dbSNP: rs1555624091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670360 SCV000795202 uncertain significance Mucopolysaccharidosis, MPS-III-A 2017-11-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670360 SCV002045477 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing

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