ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.114C>G (p.Ala38=)

gnomAD frequency: 0.00001  dbSNP: rs1219136331
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001499456 SCV001704220 likely benign Neuronal ceroid lipofuscinosis 2022-09-22 criteria provided, single submitter clinical testing

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