ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn)

gnomAD frequency: 0.00039  dbSNP: rs147451628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829176 SCV000970890 benign not provided 2018-03-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000829176 SCV001111815 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157919 SCV001319525 benign Joubert syndrome 17 2017-07-22 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 RCV000829176 SCV005305081 benign not provided criteria provided, single submitter not provided

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