ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)

dbSNP: rs1644506661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095533 SCV001251035 likely pathogenic Juvenile amyotrophic lateral sclerosis 2020-03-31 criteria provided, single submitter research

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