ClinVar Miner

Submissions for variant NM_001658.4(ARF1):c.153C>A (p.Phe51Leu)

dbSNP: rs2124857427
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV001845029 SCV002104213 pathogenic Periventricular nodular heterotopia 8 2022-03-12 criteria provided, single submitter clinical testing

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