ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)

dbSNP: rs2097481554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV001293044 SCV001433984 likely pathogenic CARASIL syndrome 2020-08-26 no assertion criteria provided clinical testing Identified in index patient

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