ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.-70C>T

gnomAD frequency: 0.00020  dbSNP: rs562538400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002158828 SCV002472352 likely benign Hereditary hemorrhagic telangiectasia 2023-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264476 SCV002546090 benign not provided 2022-05-01 criteria provided, single submitter clinical testing ENG: BS1, BS2

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