ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) (rs142553916)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000171400 SCV000281640 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171400 SCV000862510 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764656 SCV000895780 uncertain significance Sialic acid storage disease, severe infantile type; Salla disease 2018-10-31 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171400 SCV000221597 likely pathogenic not provided no assertion criteria provided research

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