ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met)

gnomAD frequency: 0.00441  dbSNP: rs73122634
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249001 SCV000312118 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415742 SCV000493527 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RXYLT1: BP4, BS2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000415742 SCV000510941 likely benign not provided 2016-11-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000415742 SCV000652996 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000249001 SCV000730853 benign not specified 2017-04-20 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.

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