ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2152+20T>C

gnomAD frequency: 0.00805  dbSNP: rs13001154
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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 RCV001518108 SCV001726752 benign Multiple gastrointestinal atresias 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001587453 SCV001823781 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001587453 SCV005263932 likely benign not provided criteria provided, single submitter not provided

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