ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) (rs145837095)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000964175 SCV000718741 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000614593 SCV000863250 likely benign not specified 2018-09-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000614593 SCV000967112 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asn609Asn in exon 14 of FAM65B: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.51% (326/64054) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs145837095).
Invitae RCV000964175 SCV001111364 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000614593 SCV001474657 benign not specified 2020-08-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000964175 SCV001745926 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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