ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)

dbSNP: rs1586807529
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985190 SCV001133209 likely pathogenic Charcot-Marie-Tooth disease axonal type 2K 2019-09-26 no assertion criteria provided clinical testing

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