ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1263+88A>G (rs118203507)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034601 SCV000043516 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Tuberous sclerosis database (TSC1) RCV000054848 SCV000065782 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054848 SCV000083183 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000119923 SCV000084053 not provided not specified 2013-09-19 no assertion provided reference population

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