ClinVar Miner

Submissions for variant NC_000002.12:g.85889045G>T

gnomAD frequency: 0.33112  dbSNP: rs28364795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000334666 SCV000483940 benign GM3 synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001637013 SCV001851667 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637013 SCV005243758 benign not provided criteria provided, single submitter not provided

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