ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.62-69G>T

gnomAD frequency: 0.00802  dbSNP: rs114852790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001390 SCV001158595 benign Telangiectasia, hereditary hemorrhagic, type 2 2018-07-23 criteria provided, single submitter clinical testing
GeneDx RCV001565436 SCV001788777 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001001390 SCV002524585 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565436 SCV005213139 likely benign not provided criteria provided, single submitter not provided

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