ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn) (rs1594838677)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786913 SCV000925814 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2u 2018-12-12 no assertion criteria provided clinical testing

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