ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)

gnomAD frequency: 0.00001  dbSNP: rs1050561499
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
Athena Diagnostics Inc RCV000991488 SCV001142938 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV000991488 SCV001408396 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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