ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) (rs79926127)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517638 SCV000614238 benign not specified 2020-03-25 criteria provided, single submitter clinical testing
Invitae RCV000878767 SCV001021730 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001125799 SCV001284911 benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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