ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.294C>T (p.Leu98=)

gnomAD frequency: 0.00205  dbSNP: rs114694892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000548523 SCV000525049 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000432907 SCV000597504 likely benign not specified 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV000548523 SCV000652997 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000548523 SCV004135442 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing RXYLT1: BP4, BP7

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