ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.640T>C (p.Leu214=)

gnomAD frequency: 0.00926  dbSNP: rs57585816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544853 SCV000630314 benign Multiple gastrointestinal atresias 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915498 SCV004728503 benign TTC7A-related disorder 2019-07-08 criteria provided, single submitter 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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