ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.568-200T>C

gnomAD frequency: 0.82884  dbSNP: rs6133374
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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 RCV001544408 SCV001763444 benign Progressive bulbar palsy of childhood 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544409 SCV001763445 benign Brown-Vialetto-van Laere syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673177 SCV001886395 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673177 SCV005315498 benign not provided criteria provided, single submitter not provided

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