ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) (rs1553259760)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516315 SCV000614102 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790082 SCV000929472 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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