ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.-14C>T (rs1139320)

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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 RCV000081542 SCV000113473 benign not specified 2012-07-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081542 SCV000311933 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339426 SCV000376912 benign Cutis laxa, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407551 SCV000483340 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305731 SCV000483341 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000081542 SCV000517700 benign not specified 2016-01-08 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.

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