ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.11477-6C>T

gnomAD frequency: 0.00007  dbSNP: rs1269602767
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999459 SCV001156072 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000999459 SCV004536171 benign not provided 2023-07-30 criteria provided, single submitter clinical testing

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