ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10161+9C>A

dbSNP: rs537317888
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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 RCV000825100 SCV000966354 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.10161+9C>A in intron 48 of GPR98: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.02% (4/16504 ) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs537317888).
Invitae RCV003698819 SCV004464707 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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