ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.102G>C (p.Arg34=)

gnomAD frequency: 0.00003  dbSNP: rs1409686440
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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 RCV001435611 SCV001638437 likely benign Multiple gastrointestinal atresias 2023-12-13 criteria provided, single submitter clinical testing

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