ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.*145del

dbSNP: rs529035174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317074 SCV000468740 likely benign Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353217 SCV000468741 likely benign Peripheral axonal neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267949 SCV000468742 likely benign Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing

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