ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.516T>C (p.Tyr172=)

gnomAD frequency: 0.00001  dbSNP: rs547002745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171901 SCV001334795 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV001481030 SCV001685364 likely benign Neuronal ceroid lipofuscinosis 2024-01-04 criteria provided, single submitter clinical testing

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