ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)

gnomAD frequency: 0.00024  dbSNP: rs144935367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001902706 SCV002147832 benign not provided 2022-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482661 SCV002776736 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2022-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001902706 SCV003918086 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing NOTCH3: PP2, BP4

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