Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079300 | SCV000111170 | benign | not specified | 2013-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082905 | SCV000285598 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000254117 | SCV000318522 | benign | Cardiovascular phenotype | 2015-08-04 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590590 | SCV000697552 | benign | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | Variant summary: The CACNA1C c.5604A>G (p.Gln1868Gln) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, the variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 335/120470 (7 homozygotes, 1/359), which significantly exceeds the estimated maximal expected allele frequency of a pathogenic CACNA1C variant of 1/100000. Therefore, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign. |
Ambry Genetics | RCV000716290 | SCV000847130 | benign | History of neurodevelopmental disorder | 2015-08-04 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
ARUP Laboratories, |
RCV000590590 | SCV000883534 | benign | not provided | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590590 | SCV001945213 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |