ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1548G>A (p.Ser516=)

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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 RCV002948900 SCV003278899 likely benign Charcot-Marie-Tooth disease type 2 2022-06-14 criteria provided, single submitter clinical testing

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