ClinVar Miner

Submissions for variant NM_014319.5(LEMD3):c.1522+11509_1522+11513del

dbSNP: rs1270248620
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003326062 SCV003853456 uncertain significance Gorham-Stout disease 2023-03-23 criteria provided, single submitter clinical testing

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