ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1860C>T (p.Leu620=)

gnomAD frequency: 0.03052  dbSNP: rs13427658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542431 SCV000630305 benign Multiple gastrointestinal atresias 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001709663 SCV001938705 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709663 SCV005241262 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915497 SCV004731271 benign TTC7A-related disorder 2019-04-01 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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