ClinVar Miner

Submissions for variant NC_000015.9:g.68504037_68504039delGAT (rs121908080)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004298 SCV000794168 likely pathogenic Neuronal ceroid lipofuscinosis 6 2017-09-18 criteria provided, single submitter clinical testing
Mendelics RCV000989354 SCV001139645 pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989354 SCV001207577 pathogenic Neuronal ceroid lipofuscinosis 2020-03-02 criteria provided, single submitter clinical testing This variant, c.461_463del, results in the deletion of 1 amino acid(s) of the CLN6 protein (p.Ile154del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families affected with CLN6-related conditions (PMID: 11727201, 12673792, 21990111). ClinVar contains an entry for this variant (Variation ID: 4083). This variant has been reported to affect CLN6 protein function (PMID: 20020536). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091349 SCV001247326 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
OMIM RCV000004298 SCV000024464 pathogenic Neuronal ceroid lipofuscinosis 6 2003-05-01 no assertion criteria provided literature only
GeneReviews RCV000004298 SCV000086974 pathologic Neuronal ceroid lipofuscinosis 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000004298 SCV000804305 pathogenic Neuronal ceroid lipofuscinosis 6 no assertion criteria provided research Late Infantile NCL

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