ClinVar Miner

Submissions for variant NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys)

gnomAD frequency: 0.00328  dbSNP: rs61730342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825661 SCV000967047 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gln595Lys in exon 14 of CEP78: This variant is not expected to have clinical s ignificance because it has been identified in 0.76% (125/16476) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs61730342).
Labcorp Genetics (formerly Invitae), Labcorp RCV000888800 SCV001032453 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000888800 SCV005266933 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV000888800 SCV005434473 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing CEP78: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003928294 SCV004744098 likely benign CEP78-related disorder 2019-07-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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