ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.471del (p.His158fs) (rs1570467252)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824897 SCV000965818 likely pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided clinical testing

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