ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1249A>T (p.Ile417Phe) (rs141653630)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000735961 SCV000864150 likely benign Hereditary hemorrhagic telangiectasia 2015-07-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. Patient is a 56 year old female who reports no history of nosebleeds or telangiectasias. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.

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