ClinVar Miner

Submissions for variant NC_000013.11:g.110148959A>G

gnomAD frequency: 0.02412  dbSNP: rs56406633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280507 SCV000483401 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248636 SCV000483402 likely benign Brain small vessel disease 1 with or without ocular anomalies 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407353 SCV000483403 likely benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705510 SCV005218262 likely benign not provided criteria provided, single submitter not provided

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