ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1073+92T>C

dbSNP: rs8122335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544338 SCV001763358 benign Progressive bulbar palsy of childhood 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544339 SCV001763359 benign Brown-Vialetto-van Laere syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685495 SCV001896083 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685495 SCV005315488 benign not provided criteria provided, single submitter not provided

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