ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)

gnomAD frequency: 0.00330  dbSNP: rs202217944
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517561 SCV000612701 benign not specified 2019-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969961 SCV001117513 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969961 SCV001149304 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CCDC88C: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000969961 SCV005217877 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000969961 SCV001799550 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000969961 SCV001966096 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551659 SCV004743582 benign CCDC88C-related disorder 2019-12-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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