ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) (rs121913608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015262 SCV000035521 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2008-01-22 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790090 SCV000929480 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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