ClinVar Miner

Submissions for variant NM_001388492.1(HTT):c.2981C>G (p.Thr994Arg)

dbSNP: rs190593027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091295 SCV001247237 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091295 SCV002202495 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001091295 SCV005189996 uncertain significance not provided criteria provided, single submitter not provided

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