ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1197+106A>G

gnomAD frequency: 0.85215  dbSNP: rs6054589
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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 RCV001544336 SCV001763356 benign Progressive bulbar palsy of childhood 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544337 SCV001763357 benign Brown-Vialetto-van Laere syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655865 SCV001862853 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655865 SCV005315486 benign not provided criteria provided, single submitter not provided

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