ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr) (rs80356726)

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Total submissions: 3
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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 RCV000005547 SCV001251062 pathogenic Amyotrophic lateral sclerosis type 10 2020-03-31 criteria provided, single submitter research
OMIM RCV000005547 SCV000025729 pathogenic Amyotrophic lateral sclerosis type 10 2008-04-01 no assertion criteria provided literature only
GeneReviews RCV000005547 SCV000041219 pathogenic Amyotrophic lateral sclerosis type 10 2015-03-12 no assertion criteria provided literature only Convincing evidence of segregation.

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