ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.11473A>G (p.Ile3825Val)

gnomAD frequency: 0.00004  dbSNP: rs201536543
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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
GeneDx RCV002244389 SCV002512981 likely benign not provided 2021-09-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002244389 SCV004525619 benign not provided 2023-05-08 criteria provided, single submitter clinical testing

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