ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.493C>T (p.Leu165=)

gnomAD frequency: 0.00010  dbSNP: rs368485758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841876 SCV000983867 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000841876 SCV001032368 likely benign not provided 2023-08-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816921 SCV002065398 benign not specified 2021-06-28 criteria provided, single submitter clinical testing

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