ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.214C>G (p.Leu72Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845008 SCV000986838 not provided Tuberous sclerosis 1 no assertion provided phenotyping only Variant interpretted as likely pathogenic and reported on 07/24/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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