ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2300-4G>C (rs376231586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586307 SCV000698471 uncertain significance not provided 2016-01-15 criteria provided, single submitter clinical testing Variant summary: The c.2300-4G>C variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 4/4 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 9/111404 control chromosomes at a frequency of 0.0000808, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010756). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Ambry Genetics RCV000622084 SCV000736656 uncertain significance Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV001084523 SCV000761636 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000772484 SCV000905663 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing

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