ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.887-6_887-5del

dbSNP: rs886048541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374250 SCV000373326 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002520737 SCV003488040 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing

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