ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.282C>T (p.Asp94=)

dbSNP: rs748857638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975699 SCV001123588 likely benign Mucopolysaccharidosis, MPS-III-A 2023-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000975699 SCV001453823 likely benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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