ClinVar Miner

Submissions for variant NM_032229.3(SLITRK6):c.73C>T (p.Leu25Phe)

gnomAD frequency: 0.01903  dbSNP: rs12863734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605978 SCV000713610 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu25Phe in exon 2 of SLITRK6: This variant is not expected to have clinical s ignificance because it has been identified in 2.59% (294/11348) of Latino chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs12863734).
GeneDx RCV000993089 SCV000717214 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993089 SCV001145820 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Invitae RCV000993089 SCV002460380 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980129 SCV004792672 benign SLITRK6-related condition 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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