ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.369G>A (p.Glu123=)

dbSNP: rs558210039
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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 RCV002904176 SCV003255033 likely benign Charcot-Marie-Tooth disease, type I 2022-06-01 criteria provided, single submitter clinical testing

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