ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1312-12G>A

gnomAD frequency: 0.00026  dbSNP: rs201684408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001458138 SCV001661953 likely benign Hereditary hemorrhagic telangiectasia 2023-12-14 criteria provided, single submitter clinical testing

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