ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)

dbSNP: rs1595818249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330790 SCV001522594 uncertain significance Ceroid lipofuscinosis, neuronal, 6A 2020-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001330790 SCV004810248 likely pathogenic Ceroid lipofuscinosis, neuronal, 6A 2024-04-04 criteria provided, single submitter clinical testing

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