ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.534+45G>C

gnomAD frequency: 0.91713  dbSNP: rs3112299
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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 RCV001553939 SCV001775048 benign Congenital disorder of glycosylation, type IIr 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553940 SCV001775049 benign Syndromic X-linked intellectual disability Hedera type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647429 SCV001860370 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647429 SCV005276161 benign not provided criteria provided, single submitter not provided

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