Submissions for variant NM_000368.4(TSC1):c.1936A>G (p.Met646Val) (rs145741748)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130315	SCV000185165	likely benign	Hereditary cancer-predisposing syndrome	2016-05-27	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx	RCV000189851	SCV000243504	likely benign	not specified	2016-07-14	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.
Illumina Clinical Services Laboratory,Illumina	RCV000403767	SCV000478219	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000295067	SCV000478220	likely benign	Focal cortical dysplasia type II	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000464079	SCV000562485	benign	Tuberous sclerosis 1	2017-11-28	criteria provided, single submitter	clinical testing

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