ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.133_134del (p.Ser45fs)

dbSNP: rs780198002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409209 SCV000485302 likely pathogenic Neuronal ceroid lipofuscinosis 5 2015-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409209 SCV004214396 likely pathogenic Neuronal ceroid lipofuscinosis 5 2023-03-11 criteria provided, single submitter clinical testing

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