ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1164C>T (p.His388=) (rs959559753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517934 SCV000615000 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000654225 SCV000776115 likely benign Charcot-Marie-Tooth disease type 4 2017-12-28 criteria provided, single submitter clinical testing

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