ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2202C>T (p.Ile734=)

gnomAD frequency: 0.05377  dbSNP: rs17036191
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526061 SCV000630307 benign Multiple gastrointestinal atresias 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001644628 SCV001858169 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644628 SCV005241281 benign not provided criteria provided, single submitter not provided

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