ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2605G>A (p.Val869Met) (rs200365973)

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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 RCV000415859 SCV000493536 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765656 SCV000896986 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-10-31 criteria provided, single submitter clinical testing

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