ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) (rs863225440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989303 SCV001139574 pathogenic Spastic paraplegia 11, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000202379 SCV000257392 pathogenic Charcot-Marie-Tooth disease, axonal type 2X 2015-11-10 no assertion criteria provided literature only

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