ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.210C>T (p.Pro70=) (rs545129173)

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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 RCV000517067 SCV000614103 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV000875743 SCV001018212 likely benign Charcot-Marie-Tooth disease, type I 2019-08-04 criteria provided, single submitter clinical testing

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