ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.1578C>T (p.Pro526=)

gnomAD frequency: 0.00001  dbSNP: rs753472052
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 RCV000936614 SCV001082384 likely benign Mucopolysaccharidosis, MPS-III-D 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276982 SCV001463685 uncertain significance Sanfilippo syndrome 2020-02-13 no assertion criteria provided clinical testing

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