ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) (rs146262009)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000191922 SCV000246145 pathogenic Spastic paraplegia 50, autosomal recessive 2014-07-01 no assertion criteria provided literature only
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles RCV000191922 SCV001481940 likely pathogenic Spastic paraplegia 50, autosomal recessive 2020-01-01 no assertion criteria provided clinical testing

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