ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1333+9T>A

dbSNP: rs747629498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429932 SCV000532514 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001441333 SCV001644261 likely benign Tuberous sclerosis 1 2022-07-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001441333 SCV002040446 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Mendelics RCV000429932 SCV002516712 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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