ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.747G>A (p.Pro249=) (rs200490364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513080 SCV000608653 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000557196 SCV000655645 likely benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2017-06-12 criteria provided, single submitter clinical testing

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