ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) (rs200111522)

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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, Partners HealthCare Personalized Medicine RCV000155121 SCV000204807 benign not specified 2015-11-25 criteria provided, single submitter clinical testing p.Asn6157Ser in Exon 88 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (62/10000) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200111522).
Invitae RCV000966188 SCV001113480 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157761 SCV001319359 likely benign Usher syndrome, type 2C 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000966188 SCV001835147 benign not provided 2018-07-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect

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