ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003991736 SCV004809918 uncertain significance Neuronal ceroid lipofuscinosis 7 2024-04-04 criteria provided, single submitter clinical testing

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