ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.447C>T (p.Leu149=)

dbSNP: rs1593911107
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437580 SCV001640437 likely benign Neuronal ceroid lipofuscinosis 2023-08-03 criteria provided, single submitter clinical testing

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