ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.708C>T (p.Leu236=)

gnomAD frequency: 0.00001  dbSNP: rs774899455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404671 SCV001606578 likely benign Multiple gastrointestinal atresias 2023-10-03 criteria provided, single submitter clinical testing

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