ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr)

gnomAD frequency: 0.00059  dbSNP: rs117017326
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 RCV000894692 SCV001038694 benign Multiple gastrointestinal atresias 2024-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709000 SCV005241216 benign not provided criteria provided, single submitter not provided

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