ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.851G>A (p.Arg284His) (rs151309813)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080486 SCV000552354 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000034612 SCV001146271 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017939 SCV001179108 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-23 criteria provided, single submitter clinical testing Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034612 SCV000043520 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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