ClinVar Miner

Submissions for variant NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) (rs201314759)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986125 SCV001135019 benign Charcot-Marie-Tooth disease type 2K 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000202412 SCV000257451 risk factor CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF 2015-01-01 no assertion criteria provided literature only

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