ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.687+32T>C

gnomAD frequency: 0.08743  dbSNP: rs1800710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830089 SCV000971824 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001538070 SCV001755084 benign Neuronal ceroid lipofuscinosis 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538071 SCV001755085 benign Autosomal recessive spinocerebellar ataxia 7 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830089 SCV005322111 benign not provided criteria provided, single submitter not provided

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