ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.671-5C>A

dbSNP: rs180841797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178860 SCV000231026 benign not specified 2014-05-14 criteria provided, single submitter clinical testing
GeneDx RCV001697164 SCV000532255 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542481 SCV000648341 benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697164 SCV004133438 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ITGA7: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003955071 SCV004777489 benign ITGA7-related disorder 2020-02-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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