ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) (rs143473232)

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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 RCV001092021 SCV001248356 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
OMIM RCV000201522 SCV000256221 pathogenic Charcot-Marie-Tooth disease, axonal, type 2w 2015-08-01 no assertion criteria provided literature only

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