ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.*816A>G

gnomAD frequency: 0.40078  dbSNP: rs8413
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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 RCV000321574 SCV000478733 benign Joubert syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004718619 SCV005323674 benign not provided criteria provided, single submitter not provided

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