ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) (rs1064797314)

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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 RCV000488187 SCV000575445 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857148 SCV000999729 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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