ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala)

dbSNP: rs1554952277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Taipei Veterans General Hospital, Neurological Institute RCV000627027 SCV000747123 likely pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2018-04-13 criteria provided, single submitter clinical testing

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