ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.144C>T (p.Ala48=)

gnomAD frequency: 0.00003  dbSNP: rs754360926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711738 SCV000842128 benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV001089118 SCV001010060 likely benign Charcot-Marie-Tooth disease type 2 2020-01-21 criteria provided, single submitter clinical testing

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