ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.150C>T (p.Asp50=)

gnomAD frequency: 0.00005  dbSNP: rs377272298
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 RCV000944428 SCV001090398 likely benign Deficiency of hyaluronoglucosaminidase 2024-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944428 SCV001460894 uncertain significance Deficiency of hyaluronoglucosaminidase 2020-01-24 no assertion criteria provided clinical testing

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