ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) (rs45517354)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125691 SCV000169155 benign not specified 2013-10-31 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.
Ambry Genetics RCV000163426 SCV000213972 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000205623 SCV000261548 benign Tuberous sclerosis 2 2018-01-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125691 SCV000305228 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713938 SCV000844585 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000125691 SCV000967123 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala1546Ala in exon 36 of TSC2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.3% (59/4392) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs45517354).
Tuberous sclerosis database (TSC2) RCV000043287 SCV000067089 not provided Tuberous sclerosis syndrome no assertion provided curation

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