ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)

gnomAD frequency: 0.00115  dbSNP: rs200187681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000214173 SCV000270237 likely benign not specified 2015-01-06 criteria provided, single submitter clinical testing p.Ile675Leu in exon 11 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (35/8602) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs200187681}.
Eurofins NTD LLC (GA) RCV000726032 SCV000341352 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
Invitae RCV000726032 SCV001062834 likely benign not provided 2021-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000726032 SCV001777914 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing

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