ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) (rs786200930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023845 SCV000045136 pathogenic Charcot-Marie-Tooth disease type 2P 2012-01-15 no assertion criteria provided literature only
GeneReviews RCV000192256 SCV000239904 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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