ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HHT Research Lab - C. Olivieri, University Of Pavia RCV003236766 SCV003935205 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 criteria provided, single submitter research This in frame deletion variant in ACVRL1 was founded in 66 subjects showing clinical signs of HHT. Other 22 unaffected relatives were tested to test the effective co-segregation of the variant with the disease. These 88 individuals belong to 19 different families. For this variant was demonstrated an Italian Founder effect. PMID: 35620871

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