ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) (rs150508296)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724863 SCV000226801 uncertain significance not provided 2015-05-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364298 SCV000376941 uncertain significance Cutis laxa, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000175330 SCV000527506 likely benign not specified 2018-01-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001087624 SCV001023381 benign ALG9 congenital disorder of glycosylation 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724863 SCV001143084 benign not provided 2019-03-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724863 SCV001502155 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing

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