ClinVar Miner

Submissions for variant NM_016474.5(CCDC174):c.1176G>A (p.Pro392=)

gnomAD frequency: 0.39015  dbSNP: rs1901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554711 SCV001775997 benign Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001619986 SCV001846713 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619986 SCV005239916 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980694 SCV004799381 benign CCDC174-related disorder 2019-10-17 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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