ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.483T>C (p.Asp161=)

gnomAD frequency: 0.00004  dbSNP: rs368360137
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915099 SCV001060294 likely benign Deficiency of hyaluronoglucosaminidase 2024-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000915099 SCV001460891 uncertain significance Deficiency of hyaluronoglucosaminidase 2020-02-13 no assertion criteria provided clinical testing

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