ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.199-4G>A

gnomAD frequency: 0.00001  dbSNP: rs767945732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503429 SCV001708284 likely benign Neuronal ceroid lipofuscinosis 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002567961 SCV003580415 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.199-4G>A intronic alteration consists of a G to A substitution 4 nucleotides before exon 3 of the CLN6 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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