ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)

gnomAD frequency: 0.00007  dbSNP: rs373667458
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000177476 SCV000229337 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000177476 SCV001473146 likely benign not provided 2019-07-28 criteria provided, single submitter clinical testing
Invitae RCV000177476 SCV001650268 likely benign not provided 2021-11-29 criteria provided, single submitter clinical testing

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