ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1026C>T (p.Ile342=)

dbSNP: rs151317740
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560863 SCV000630301 benign Multiple gastrointestinal atresias 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703190 SCV004146061 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001703190 SCV005241238 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703190 SCV001927727 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703190 SCV001965541 likely benign not provided no assertion criteria provided clinical testing

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