ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) (rs77833016)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086200 SCV001007067 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000866027 SCV001145366 likely benign not provided 2019-03-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173806 SCV001336920 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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