ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)

dbSNP: rs201747452
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Total submissions: 3
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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 RCV000215353 SCV000270229 likely benign not specified 2015-02-02 criteria provided, single submitter clinical testing p.Pro4811Leu in exon 70 of GPR98: This variant is not expected to have clinical significance because proline (Pro) residue at position 4811 is not conserved thr ough species, with 3 mammals (squirrel, cat and shrew) and more than 10 birds & reptiles species having a leucine (Leu) at this position. This variant has been reported in 4/44888 European chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org).
Eurofins NTD LLC (GA) RCV000726146 SCV000342388 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000726146 SCV001546282 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing

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