ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)

gnomAD frequency: 0.00001  dbSNP: rs748774860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892191 SCV001036053 likely benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505282 SCV002799863 likely benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-08-24 criteria provided, single submitter clinical testing

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