ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1337C>T (p.Ser446Leu)

gnomAD frequency: 0.00207  dbSNP: rs114202807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633680 SCV000754942 likely benign Multiple gastrointestinal atresias 2024-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711247 SCV005263927 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935771 SCV004749184 benign TTC7A-related disorder 2019-07-08 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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