ClinVar Miner

Submissions for variant NM_199292.3(TH):c.941C>T (p.Thr314Met) (rs121917764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000013123 SCV000800506 uncertain significance Segawa syndrome, autosomal recessive 2017-03-10 criteria provided, single submitter clinical testing
OMIM RCV000013123 SCV000033370 pathogenic Segawa syndrome, autosomal recessive 2000-01-01 no assertion criteria provided literature only

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