ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1596C>T (p.Pro532=) (rs374296728)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000587758 SCV000627463 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587758 SCV000696025 likely benign not provided 2016-04-04 criteria provided, single submitter clinical testing Variant summary: The c.2616C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions are not confirmed by experimental studies. This variant is found in 3/4406 AFrican American control chromosomes (ESP) at a frequency of 0.00068089, which is about 7 times of the maximal expected frequency of a pathogenic allele (0.0001). 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. Taken together, this variant was classified as Likely Benign.
Color RCV000777937 SCV000914034 likely benign Arrhythmia 2018-07-09 criteria provided, single submitter clinical testing

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