ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)

gnomAD frequency: 0.00004  dbSNP: rs781878519
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436424 SCV001639266 likely benign Deficiency of hyaluronoglucosaminidase 2024-01-11 criteria provided, single submitter clinical testing

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