ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)

gnomAD frequency: 0.00005  dbSNP: rs1337328035
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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 RCV000991725 SCV001143405 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497285 SCV002784261 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-08-18 criteria provided, single submitter clinical testing

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