ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) (rs200488568)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762082 SCV000892338 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
OMIM RCV000043694 SCV000071707 pathogenic Charcot-Marie-Tooth disease, type 4B3 2013-07-09 no assertion criteria provided literature only

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