ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2085C>G (p.Pro695=)

gnomAD frequency: 0.00095  dbSNP: rs139460494
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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 RCV000960517 SCV001107497 benign Multiple gastrointestinal atresias 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531914 SCV001747244 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001531914 SCV001931600 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531914 SCV001964287 likely benign not provided no assertion criteria provided clinical testing

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