ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2517C>T (p.Ala839=)

gnomAD frequency: 0.00001  dbSNP: rs751895973
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442316 SCV001645265 likely benign Multiple gastrointestinal atresias 2024-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531916 SCV001747246 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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