ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.288G>A (p.Arg96=)

gnomAD frequency: 0.00195  dbSNP: rs371684007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193592 SCV000247038 likely benign not specified 2015-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001697270 SCV000723593 likely benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Invitae RCV000875090 SCV001017365 benign Ehlers-Danlos syndrome, musculocontractural type 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433866 SCV002750530 benign Cardiovascular phenotype 2020-11-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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