ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.423C>G (p.Ala141=) (rs61758751)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000334464 SCV000338242 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377374 SCV000440718 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000712886 SCV000638307 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712886 SCV000843437 benign not provided 2017-12-27 criteria provided, single submitter clinical testing

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