ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)

dbSNP: rs1554810234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507429 SCV000603459 pathogenic not specified 2016-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480660 SCV004226815 pathogenic not provided 2022-02-15 criteria provided, single submitter clinical testing PP4, PM2, PS4_moderate, PVS1

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