ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1344C>T (p.Pro448=)

gnomAD frequency: 0.00003  dbSNP: rs754482689
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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 RCV001392480 SCV001594123 likely benign Multiple gastrointestinal atresias 2020-11-27 criteria provided, single submitter clinical testing

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