ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.140del (p.Lys47fs)

dbSNP: rs1808858148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico RCV001250993 SCV001424519 pathogenic Charcot-Marie-Tooth disease axonal type 2K 2020-01-26 criteria provided, single submitter clinical testing

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