ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3816G>A (p.Leu1272=)

gnomAD frequency: 0.00002  dbSNP: rs202004141
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Total submissions: 2
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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 RCV000213746 SCV000270240 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing p.Leu1272Leu in exon 20 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/11478 of Latin o chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs202004141).
Invitae RCV002057108 SCV002336267 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing

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