ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.835G>A (p.Val279Met)

gnomAD frequency: 0.00001  dbSNP: rs745305935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255607 SCV001432133 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2020-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726471 SCV001961252 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing

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