ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.796G>A (p.Val266Met)

gnomAD frequency: 0.00001  dbSNP: rs782299729
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001280177 SCV001467337 uncertain significance Deficiency of hyaluronoglucosaminidase 2020-08-13 no assertion criteria provided clinical testing

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