ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.665+1G>T

dbSNP: rs796052356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647223 SCV001519308 likely pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005005179 SCV005630982 likely pathogenic Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 2024-06-13 criteria provided, single submitter clinical testing

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