ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1701C>T (p.His567=)

gnomAD frequency: 0.00002  dbSNP: rs375117959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455610 SCV000540616 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063669 SCV002430315 likely benign Multiple gastrointestinal atresias 2023-07-31 criteria provided, single submitter clinical testing

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