ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) (rs369813654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000980 SCV001158082 uncertain significance not specified 2018-12-28 criteria provided, single submitter clinical testing The NOTCH3 c.6632A>G; p.Tyr2211Cys variant (rs369813654), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an allele frequency of 0.067% (12/17,910 alleles) in the Genome Aggregation Database. The tyrosine at codon 2211 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Tyr2211Cys variant is uncertain at this time.
Athena Diagnostics Inc RCV001288550 SCV001475730 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing

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