ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser)

dbSNP: rs1586806110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007465 SCV001167078 uncertain significance Charcot-Marie-Tooth disease axonal type 2K criteria provided, single submitter clinical testing

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