ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)

dbSNP: rs1169130967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494559 SCV004244353 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2024-01-22 criteria provided, single submitter clinical testing Criteria applied: PM1_SUP,PM2_SUP,PP3

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