ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) (rs863223328)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000201927 SCV000189425 benign Charcot-Marie-Tooth disease 2014-10-01 no assertion criteria provided research Present in only four out of five affected family members, seen in one unaffected family member.

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