ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.141C>T (p.His47=)

gnomAD frequency: 0.00024  dbSNP: rs147089930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001404202 SCV001606098 likely benign Deficiency of hyaluronoglucosaminidase 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438769 SCV004148022 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HYAL1: BP4, BP7
Natera, Inc. RCV001404202 SCV002082363 likely benign Deficiency of hyaluronoglucosaminidase 2020-02-04 no assertion criteria provided clinical testing

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