ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.625+164T>C

gnomAD frequency: 0.07925  dbSNP: rs77709482
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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 RCV000508151 SCV000602412 benign Telangiectasia, hereditary hemorrhagic, type 2 2020-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001637053 SCV001849522 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000508151 SCV002524590 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637053 SCV005228899 benign not provided criteria provided, single submitter not provided

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