ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.646-7T>C

gnomAD frequency: 0.00087  dbSNP: rs140597965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724869 SCV000231817 uncertain significance not provided 2015-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000724869 SCV000719700 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Invitae RCV001079035 SCV001019488 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277423 SCV002566086 uncertain significance Ehlers-Danlos syndrome 2020-01-01 criteria provided, single submitter clinical testing

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