ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)

gnomAD frequency: 0.00001  dbSNP: rs755398328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288522 SCV001475687 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001810017 SCV002059874 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2020-03-03 criteria provided, single submitter clinical testing

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