ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2445G>A (p.Ala815=)

gnomAD frequency: 0.00009  dbSNP: rs538187043
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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 RCV000935070 SCV001080809 benign Multiple gastrointestinal atresias 2023-12-30 criteria provided, single submitter clinical testing

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