ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.2961G>A (p.Val987=)

gnomAD frequency: 0.23018  dbSNP: rs8141744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001672160 SCV001888363 benign not provided 2019-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672160 SCV005275753 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003968452 SCV004792350 benign CELSR1-related disorder 2019-10-21 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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