ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.507T>G (p.Ser169=) (rs11554166)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576842 SCV000677309 benign Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A 2017-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325881 SCV000474966 benign Charcot-Marie-Tooth with Vocal Cord Paresis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380453 SCV000474967 benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000251902 SCV000929646 uncertain significance not specified no assertion criteria provided literature only
PreventionGenetics RCV000251902 SCV000313284 benign not specified criteria provided, single submitter clinical testing

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