ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2217C>T (p.Ser739=)

gnomAD frequency: 0.00001  dbSNP: rs746986308
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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 RCV000946072 SCV001092162 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703641 SCV005213223 likely benign not provided criteria provided, single submitter not provided

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