ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1853-14GCTCCC[3]

dbSNP: rs373296026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999219 SCV001155735 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479187 SCV002795909 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2021-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000999219 SCV003195030 likely benign not provided 2023-01-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002479187 SCV003799342 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2022-10-19 criteria provided, single submitter clinical testing

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