ClinVar Miner

Submissions for variant NM_022786.3(ARV1):c.674-2A>T

dbSNP: rs1192627743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623178 SCV000741089 pathogenic Inborn genetic diseases 2016-07-14 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000626020 SCV000746630 uncertain significance Developmental and epileptic encephalopathy, 38 2018-03-07 criteria provided, single submitter clinical testing Homozygous variant detected in two affected sisters ages 3 and 15; parents are heterozygous.
OMIM RCV000626020 SCV001338932 pathogenic Developmental and epileptic encephalopathy, 38 2020-10-23 no assertion criteria provided literature only

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