ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1297-6T>C

dbSNP: rs1554975593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654197 SCV000776087 likely benign Charcot-Marie-Tooth disease type 4 2017-12-17 criteria provided, single submitter clinical testing

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