ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.*1464dup

dbSNP: rs560124949
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317843 SCV000457551 uncertain significance Stuve-Wiedemann syndrome 2016-06-14 criteria provided, single submitter clinical testing

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