ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) (rs28940280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989152 SCV001139368 pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000002675 SCV000022833 pathogenic Neuronal ceroid lipofuscinosis 5 1998-07-01 no assertion criteria provided literature only

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