ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.-110-1G>A

dbSNP: rs1554853682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000664210 SCV001523323 uncertain significance Brown-Vialetto-van Laere syndrome 2 2019-07-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002225708 SCV002504469 pathogenic not provided 2020-05-15 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29858556, 34426522)
Institute of Human Genetics, Cologne University RCV000664210 SCV000787769 likely pathogenic Brown-Vialetto-van Laere syndrome 2 2018-04-25 no assertion criteria provided clinical testing

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