ClinVar Miner

Submissions for variant NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) (rs141736123)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000607588 SCV000790130 likely benign Abetalipoproteinaemia 2017-03-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607588 SCV000734297 benign Abetalipoproteinaemia no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000607588 SCV000446699 likely benign Abetalipoproteinaemia 2016-06-14 criteria provided, single submitter clinical testing

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