ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.498G>A (p.Ala166=)

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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 RCV002937562 SCV003258668 likely benign Charcot-Marie-Tooth disease type 4 2023-02-02 criteria provided, single submitter clinical testing

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