ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) (rs45517362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713940 SCV000844587 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing
Mendelics RCV000989438 SCV001139762 likely pathogenic Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043318 SCV000067124 not provided Tuberous sclerosis syndrome no assertion provided curation

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