ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.793-9A>G

gnomAD frequency: 0.00004  dbSNP: rs780164582
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 RCV000901090 SCV001045442 likely benign Mucopolysaccharidosis, MPS-III-D 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276984 SCV001463687 uncertain significance Sanfilippo syndrome 2020-01-24 no assertion criteria provided clinical testing

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