ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.554-4G>A

gnomAD frequency: 0.58997  dbSNP: rs2245425
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252823 SCV000307164 benign not specified criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000626056 SCV000746678 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV000626056 SCV001721351 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001537297 SCV001754163 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000626056 SCV001984161 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2019-12-29 criteria provided, single submitter clinical testing

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