ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.*4248C>T

gnomAD frequency: 0.00018  dbSNP: rs886063567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305447 SCV000477931 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341741 SCV000477932 uncertain significance Isolated focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing

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