ClinVar Miner

Submissions for variant NC_000016.10:g.88811949G>T

gnomAD frequency: 0.06915  dbSNP: rs8191469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000322291 SCV000483562 likely benign Adenine phosphoribosyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383897 SCV000483563 likely benign Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683467 SCV001897802 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683467 SCV005219605 likely benign not provided criteria provided, single submitter not provided

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