ClinVar Miner

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

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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	Ceroid lipofuscinosis neuronal 1		no assertion criteria provided	clinical testing

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