ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)

dbSNP: rs1355624192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996530 SCV001151282 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002236004 SCV002511667 uncertain significance not specified 2022-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481778 SCV002791452 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 2021-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678891 SCV005166040 likely benign Cardiovascular phenotype 2024-05-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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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